Molecular screening ofSHH,ZIC2,SIX3, andTGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

Chiang, C. C., Litingtung, Y., Lee, E., Young, K. E., Corden, J. L., Westphal, H., & Beachy, P. A. (1996) · Nature · doi:10.1038/383407a0 · Cited by 3,062 · see citing works

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Roessler, E., Belloni, E., Gaudenz, K., Jay, P., Berta, P., Scherer, S. W., Tsui, L.-C., & Muenke, M. (1996) · Nature Genetics · doi:10.1038/ng1196-357 · Cited by 1,152 · see citing works

Sonic hedgehog regulates the growth and patterning of the cerebellum

Dahmane, N., & Altaba, A. R. I. (1999) · Development · doi:10.1242/dev.126.14.3089 · Cited by 908 · see citing works

Nomenclature for the description of human sequence variations

den Dunnen, J., & Antonarakis, S. E. (2001) · Human Genetics · doi:10.1007/s004390100505 · Cited by 899 · see citing works

Purkinje-cell-derived Sonic hedgehog regulates granule neuron precursor cell proliferation in the developing mouse cerebellum

Wallace, V. A. (1999) · Current Biology · doi:10.1016/s0960-9822(99)80195-x · Cited by 651 · see citing works

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Belloni, E., Muenke, M., Roessler, E., Traverse, G., Siegel-Bartelt, J., Frumkin, A., Mitchell, H. F., Donis-Keller, H., Helms, C. A., Hing, A. V., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-353 · Cited by 643 · see citing works

A Smad Transcriptional Corepressor

Wotton, D., Lo, R. S., Lee, S., & Massagué, J. (1999) · Cell · doi:10.1016/s0092-8674(00)80712-6 · Cited by 554 · see citing works

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

Brown, S. A., Warburton, D., Brown, L. Y., Yu, C., Roeder, E. R., Stengel‐Rutkowski, S., Hennekam, R. C. M., & Muenke, M. (1998) · Nature Genetics · doi:10.1038/2484 · Cited by 519 · see citing works

The HUGO Gene Nomenclature Committee (HGNC)

Povey, S., Lovering, R. C., Bruford, E. A., Wright, M. W., Lush, M. J., & Wain, H. (2001) · Human Genetics · doi:10.1007/s00439-001-0615-0 · Cited by 509 · see citing works

Induction of the zebrafish ventral brain and floorplate requires cyclops/nodal signalling

Sampath, K., Rubinstein, A. L., Cheng, A. M. S., Liang, J. O., Fekany-Lee, K., Solnica‐Krezel, L., Korzh, V. P., Halpern, M. E., & Wright, C. V. E. (1998) · Nature · doi:10.1038/26020 · Cited by 457 · see citing works

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

WALLIS, D. E., Roessler, E., Hehr, U., Nanni, L., Wiltshire, T., Richieri‐Costa, A., Gillessen‐Kaesbach, G., Zackai, E. H., Rommens, J. M., & Muenke, M. (1999) · Nature Genetics · doi:10.1038/9718 · Cited by 429 · see citing works

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Gripp, K. W., Wotton, D., Edwards, M. C., Roessler, E., Adès, L. C., Meinecke, P., Richieri‐Costa, A., Zackai, E. H., Massagué, J., Muenke, M., et al. (2000) · Nature Genetics · doi:10.1038/76074 · Cited by 392 · see citing works

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Nanni, L., Ming, J. E., Bocian, M. E., Steinhaus, K. A., Bianchi, D. W., de Die-Smulders, C. E. M., Giannotti, A., Imaizumi, K., Jones, K. L., Campo, M. D., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.13.2479 · Cited by 360 · see citing works

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

Roessler, E., Du, Y., Mullor, J. L., Casas, E., Allen, W., Gillessen‐Kaesbach, G., Roeder, E. R., Ming, J. E., Altaba, A. R. I., & Muenke, M. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2235734100 · Cited by 348 · see citing works

Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly

Ming, J. E., & Muenke, M. (2002) · The American Journal of Human Genetics · doi:10.1086/344412 · Cited by 310 · see citing works

Hedgehog signaling is required for pituitary gland development

Treier, M., O’Connell, S. M., Gleiberman, A. S., Price, J. A., Szeto, D. P., Burgess, R., Chuang, P., McMahon, A. P., & Rosenfeld, M. G. (2001) · Development · doi:10.1242/dev.128.3.377 · Cited by 299 · see citing works

Alobar Holoprosencephaly (Arhinencephaly) with Median Cleft Lip and Palate: Clinical, Electroencephalographic and Nosologic Considerations (Part 1 of 2)

Demyer, W., & Zeman, W. (2007) · Confinia Neurologica · doi:10.1159/000104278 · Cited by 255 · see citing works

Zic2 regulates the kinetics of neurulation

Nagai, T., Aruga, J., Minowa, O., Sugimoto, T., Ohno, Y., Noda, T., & Mikoshiba, K. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.4.1618 · Cited by 245 · see citing works

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

Ming, J. E., Kaupas, M. E., Roessler, E., Brunner, H. G., Golabi, M., Tekin, M., Stratton, R. F., Sujansky, E., Bale, S. J., & Muenke, M. (2002) · Human Genetics · doi:10.1007/s00439-002-0695-5 · Cited by 239 · see citing works

Fibroblast growth factor signalling in the hair growth cycle: Expression of the fibroblast growth factor receptor and ligand genes in the murine hair follicle

Rosenquist, T. A., & Martin, G. R. (1996) · Developmental Dynamics · doi:10.1002/(sici)1097-0177(199604)205:4 · Cited by 196 · see citing works

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

Brown, L. Y. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.8.791 · Cited by 182 · see citing works

Six3inactivation reveals its essential role for the formation and patterning of the vertebrate eye

Carl, M., Loosli, F., & Wittbrodt, J. (2002) · Development · doi:10.1242/dev.129.17.4057 · Cited by 179 · see citing works

Discrete localizations of hedgehog signalling components in the developing and adult rat nervous system

Traiffort, É., Charytoniuk, D., Watroba, L., Faure, H., Salès, N., & Ruat, M. (1999) · European Journal of Neuroscience · doi:10.1046/j.1460-9568.1999.00777.x · Cited by 168 · see citing works

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

Odent, S., Attié‐Bitach, T., Blayau, M., Mathieu, M., Augé, J., Delezoide, A., Gall, J. L., Marec, B. L., Münnich, A., David, V., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.9.1683 · Cited by 154 · see citing works

Detection of Single-Nucleotide Polymorphisms with the WAVE™ DNA Fragment Analysis System

Kuklin, A. I., MUNSON, K., Gjerde, D. T., Haefele, R., & Taylor, P. D. (1997) · Genetic Testing · doi:10.1089/gte.1997.1.201 · Cited by 151 · see citing works

Molecular Mechanisms of Holoprosencephaly

WALLIS, D. E., & Muenke, M. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1999.2895 · Cited by 136 · see citing works

Teratogenicity of low doses of all‐trans retinoic acid in presomite mouse embryos

Sulik, K. K., Dehart, D. B., Rogers, J. M., & Chernoff, N. (1995) · Teratology · doi:10.1002/tera.1420510605 · Cited by 128 · see citing works

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

Cruz-Racelis, J. D., Bamford, R. N., Burdine, R. D., Roessler, E., Barkovich, A. J., Donnai, D., Schier, A. F., & Muenke, M. (2002) · Human Genetics · doi:10.1007/s00439-002-0709-3 · Cited by 100 · see citing works

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

Pasquier, L., Dubourg, C., Blayau, M., Lázaro, L., Marec, B. L., David, V., & Odent, S. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200540 · Cited by 61 · see citing works

Segregation analysis in nonsyndromic holoprosencephaly

Odent, S., Marec, B. L., Münnich, A., Merrer, M. F. L., & Bona�ti-Pelli�, C. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980501)77:2 · Cited by 52 · see citing works

The facial features of holoprosencephaly in anencephalic human specimens. I. Historical review and associated malformations

Lemire, R. J., Cohen, M. M., Beckwith, J. B., Kōkich, V. G., & Siebert, J. R. (1981) · Teratology · doi:10.1002/tera.1420230304 · Cited by 51 · see citing works

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

Aguilella, C., Dubourg, C., Attia‐Sobol, J., Vigneron, J., Blayau, M., Pasquier, L., Lazaro, L., Odent, S., & David, V. (2003) · Human Genetics · doi:10.1007/s00439-002-0862-8 · Cited by 50 · see citing works

Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene

Brown, L. Y., Hodge, S. E., Johnson, W. G., Guy, S. G., Nye, J. S., & Brown, S. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10221 · Cited by 35 · see citing works

Transcriptional landscape of the prenatal human brain

Miller, J. A., Ding, S.-L., Sunkin, S. M., Smith, K. A., Ng, L., Szafer, A., Ebbert, A., Riley, Z. L., Royall, J. J., Aiona, K., et al. (2014) · Nature · doi:10.1038/nature13185 · Cited by 1,325 · see citing works

Holoprosencephaly

Dubourg, C., Bendavid, C., Pasquier, L., Henry, C., Odent, S., & David, V. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-8 · Cited by 355 · see citing works

The molecular genetics of holoprosencephaly

Roessler, E., & Muenke, M. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30236 · Cited by 255 · see citing works

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

Bakrania, P., Efthymiou, M., Klein, J. C., Salt, A., Bunyan, D. J., Wyatt, A., Ponting, C. P., Martin, A., Williams, S., Lindley, V., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.023 · Cited by 241 · see citing works

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Shaffer, L. G., Theisen, A. P., Bejjani, B. A., Ballif, B. C., Aylsworth, A. S., Lim, C., McDonald, M., Ellison, J. W., Kostiner, D. R., Saitta, S. C., et al. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e3181484b49 · Cited by 198 · see citing works

Haploinsufficiency of Six3 Fails to Activate Sonic hedgehog Expression in the Ventral Forebrain and Causes Holoprosencephaly

Geng, X., Speirs, C. K., Lagutin, O. V., Inbal, A., Liu, W., Solnica‐Krezel, L., Jeong, Y., Epstein, D. J., & Oliver, G. C. (2008) · Developmental Cell · doi:10.1016/j.devcel.2008.07.003 · Cited by 190 · see citing works

From Human Genetics and Genomics to Pharmacogenetics and Pharmacogenomics: Past Lessons, Future Directions

Nebert, D. W., Zhang, G., & Vesell, E. S. (2008) · Drug Metabolism Reviews · doi:10.1080/03602530801952864 · Cited by 179 · see citing works

Genetic links between brain development and brain evolution

Gilbert, S. L., Dobyns, W. B., & Lahn, B. T. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1634 · Cited by 173 · see citing works

The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling

Bosanac, I., Maun, H. R., Scales, S. J., Wen, X., Lingel, A., Bazán, J. F., de Sauvage, F. J., Hymowitz, S. G., & Lazarus, R. A. (2009) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1632 · Cited by 147 · see citing works

Hedgehog Signal and Genetic Disorders

Sasai, N., Toriyama, M., & Kondo, T. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.01103 · Cited by 141 · see citing works

Emerging roles for zic genes in early development

Merzdorf, C. (2007) · Developmental Dynamics · doi:10.1002/dvdy.21098 · Cited by 140 · see citing works

Hedgehog signaling update

Cohen, M. M. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32909 · Cited by 130 · see citing works

New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases

Mercier, S., Dubourg, C., Garcelon, N., Campillo‐Gimenez, B., Gicquel, I., Belleguic, M., Ratié, L., Pasquier, L., Loget, P., Bendavid, C., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100339 · Cited by 109 · see citing works

Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans

Petryk, A., Graf, D., & Marcucio, R. (2014) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.161 · Cited by 108 · see citing works

Clinical spectrum of SIX3 -associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Lacbawan, F. L., Solomon, B. D., Roessler, E., El-Jaick, K. B., Domené, S., Velez, J. I., Zhou, N., Hadley, D. W., Balog, J. Z., Long, R. T. L., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.063818 · Cited by 100 · see citing works

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci

Bendavid, C., Rochard, L. J., Dubourg, C., Séguin, J., Gicquel, I., Pasquier, L., Vigneron, J., Laquerrière, A., Marcorelles, P., Jeanne‐Pasquier, C., et al. (2009) · Human Mutation · doi:10.1002/humu.21016 · Cited by 91 · see citing works

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation

Brown, L. Y., Paraso, M., Arkell, R. M., & Brown, S. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi037 · Cited by 89 · see citing works

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Solomon, B. D., Lacbawan, F. L., Mercier, S., Clegg, N. J., Delgado, M. R., Rosenbaum, K. N., Dubourg, C., David, V., Olney, A. H., Wehner, L.-E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073049 · Cited by 88 · see citing works

The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Roessler, E., El-Jaick, K. B., Dubourg, C., Velez, J. I., Solomon, B. D., Pineda‐Alvarez, D., Lacbawan, F. L., Zhou, N., Ouspenskaia, M. V., Paulussen, A. D. C., et al. (2009) · Human Mutation · doi:10.1002/humu.21090 · Cited by 87 · see citing works

Mechanisms of non-Mendelian inheritance in genetic disease

van Heyningen, V. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh254 · Cited by 86 · see citing works

Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly

Traiffort, É., Dubourg, C., Faure, H., Rognan, D., Odent, S., Durou, M., David, V., & Ruat, M. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m405161200 · Cited by 83 · see citing works

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

Reis, L. M., & Semina, E. V. (2015) · Birth Defects Research Part C Embryo Today Reviews · doi:10.1002/bdrc.21097 · Cited by 81 · see citing works

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE

Rosenfeld, J. A., Ballif, B. C., Martin, D. M., Aylsworth, A. S., Bejjani, B. A., Torchia, B. S., & Shaffer, L. G. (2010) · Human Genetics · doi:10.1007/s00439-009-0778-7 · Cited by 74 · see citing works

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

Pineda‐Alvarez, D., Dubourg, C., David, V., Roessler, E., & Muenke, M. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30253 · Cited by 74 · see citing works

The canonical Wnt/ß-catenin signaling pathway regulates Fgf signaling for early facial development

Wang, Y., Song, L., & Zhou, C. J. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.11.004 · Cited by 73 · see citing works

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

Weber, S., Landwehr, C., Renkert-Baudis, M., Hoischen, A., Wühl, E., Denecke, J., Radlwimmer, B., Haffner, D., Schaefer, F. S., & Weber, R. G. (2010) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfq400 · Cited by 68 · see citing works

Holoprosencephaly: recommendations for diagnosis and management

Kauvar, E. F., & Muenke, M. (2010) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e32833f56d5 · Cited by 67 · see citing works

FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus

Amorosi, S., D'Armiento, M. R., Calcagno, G., Russo, I., Adriani, M., Christiano, A., Weiner, L., Brissette, J., & Pignata, C. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.00977.x · Cited by 64 · see citing works

Holoprosencephaly: new models, new insights

Krauss, R. S. (2007) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399407000440 · Cited by 61 · see citing works

Development of the Pituitary Gland

Alatzoglou, K. S., Gregory, L. C., & Dattani, M. (2020) · Comprehensive physiology · doi:10.1002/cphy.c150043 · Cited by 80 · see citing works

Holoprosencephaly: An update on cytogenetic abnormalities

Bendavid, C., Dupé, V., Rochard, L. J., Gicquel, I., Dubourg, C., & David, V. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30250 · Cited by 58 · see citing works

Pituitary Stalk Interruption Syndrome and Isolated Pituitary Hypoplasia May Be Caused by Mutations in Holoprosencephaly-Related Genes

Tatsi, C., Sertedaki, A., Voutetakis, A., Valavani, E., Magiakou, M. A., Kanaka‐Gantenbein, C., Chrousos, G. P., & Dacou‐Voutetakis, C. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-3982 · Cited by 58 · see citing works

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes

Bendavid, C., Dubourg, C., Gicquel, I., Pasquier, L., Saugier-Véber, P., Durou, M., Jaillard, S., Frébourg, T., Haddad, B. R., Henry, C., et al. (2005) · Human Genetics · doi:10.1007/s00439-005-0097-6 · Cited by 57 · see citing works

Sox2 is required for embryonic development of the ventral telencephalon through the activation of the ventral determinants Nkx2.1 and Shh

Ferri, L., Favaro, R., Beccari, L. L., Bertolini, J. A., Mercurio, S., Nieto‐Lopez, F., Verzeroli, C., Regina, F. L., Tonelli, D. D. P., Ottolenghi, S., et al. (2013) · Development · doi:10.1242/dev.073411 · Cited by 52 · see citing works

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

Domené, S., Roessler, E., El-Jaick, K. B., Snir, M., Brown, J. L., Velez, J. I., Bale, S. J., Lacbawan, F. L., Muenke, M., & Feldman, B. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn294 · Cited by 55 · see citing works

Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE)

Mercier, S., Dubourg, C., Belleguic, M., Pasquier, L., Loget, P., Lucas, J., Bendavid, C., & Odent, S. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30246 · Cited by 54 · see citing works

NOTCH, a new signaling pathway implicated in holoprosencephaly

Dupé, V., Rochard, L. J., Mercier, S., Pétillon, Y. L., Gicquel, I., Bendavid, C., Bourrouillou, G., Kini, U., Thauvin‐Robinet, C., Bohan, T. P., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq556 · Cited by 54 · see citing works

Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene × gene interactions

Roessler, E., Velez, J. I., Zhou, N., & Muenke, M. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2012.01.005 · Cited by 53 · see citing works

Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development

Jenkins, D., Winyard, P. J. D., & Woolf, A. S. (2007) · Journal of Anatomy · doi:10.1111/j.1469-7580.2007.00808.x · Cited by 53 · see citing works

The ups and downs of holoprosencephaly: dorsal versus ventral patterning forces

Fernandes, M., & Hébert, J. M. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.00994.x · Cited by 51 · see citing works

Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation

Ragge, N. (2005) · British Journal of Ophthalmology · doi:10.1136/bjo.2004.061390 · Cited by 51 · see citing works

Control of mammalian kidney development by the Hedgehog signaling pathway

Cain, J. E., & Rosenblum, N. D. (2010) · Pediatric Nephrology · doi:10.1007/s00467-010-1704-x · Cited by 47 · see citing works

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

Bendavid, C., Haddad, B. R., Griffin, A., Huizing, M., Dubourg, C., Gicquel, I., Cavalli, L. R., Pasquier, L., Shanske, A. L., Long, R., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.037176 · Cited by 45 · see citing works

Heritability and transmission analysis of necrotizing meningoencephalitis in the Pug

Greer, K. A., Schatzberg, S. J., Porter, B. F., Jones, K. A., Famula, T. R., & Murphy, K. E. (2008) · Research in Veterinary Science · doi:10.1016/j.rvsc.2008.10.002 · Cited by 44 · see citing works

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

Mouden, C., Dubourg, C., Carré, W., Rose, S., Quēlin, C., Akloul, L., Hamdi‐Rozé, H., Viot, G., Salhi, H., Darnault, P., et al. (2016) · Clinical Genetics · doi:10.1111/cge.12722 · Cited by 42 · see citing works

Congenital Anomalies of the Central Nervous System

Kinsman, S. L., & Johnston, M. V. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-0755-7.00585-6 · Cited by 43 · see citing works

Molecular changes associated with teratogen‐induced cyclopia

Loucks, E. J., Schwend, T., & Ahlgren, S. C. (2007) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20387 · Cited by 42 · see citing works

MaternalXenopus Zic2negatively regulatesNodal-relatedgene expression during anteroposterior patterning

Houston, D. W., & Wylie, C. C. (2005) · Development · doi:10.1242/dev.02066 · Cited by 45 · see citing works

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations: Figure 1

Pasquier, L., Dubourg, C., Gonzalès, M., Lazaro, L., David, V., Odent, S., & Encha‐Razavi, F. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.023416 · Cited by 42 · see citing works

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Paulussen, A. D. C., Schrander-Stumpel, C. T. R. M., Tserpelis, D., Spee, M. K. M., Stegmann, A. P. A., Mancini, G. M. S., Brooks, A. S., Collee, M. J., Maat‐Kievit, A., Simon, M., et al. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.70 · Cited by 41 · see citing works

High Proportion of Pituitary Abnormalities and Other Congenital Defects in Children with Congenital Nasal Pyriform Aperture Stenosis

Guilmin‐Crépon, S., Garel, C., Baumann, C., Brémond‐Gignac, D., Bailleul‐Forestier, I., Magnier, S., Castanet, M., Czernichow, P., Abbeele, T. V. D., & Léger, J. (2006) · Pediatric Research · doi:10.1203/01.pdr.0000238380.03683.cb · Cited by 41 · see citing works

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients

Portnoï, M., Gruchy, N., Marlin, S., Finkel, L., Denoyelle, F., Dubourg, C., Odent, S., Siffroi, J., Bouc, Y. L., & Houang, M. (2007) · Clinical Dysmorphology · doi:10.1097/mcd.0b013e328235a572 · Cited by 40 · see citing works

An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995–2004

Ong, S., Tonks, A. M., Woodward, E. R., Wyldes, M. P., & Kilby, M. D. (2007) · Prenatal Diagnosis · doi:10.1002/pd.1677 · Cited by 40 · see citing works

Intragenic deletion of Tgif causes defectsin brain development

Kuang, C., Xiao, Y., Yang, L., Chen, Q., Wang, Z., Conway, S. J., & Chen, Y. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl427 · Cited by 39 · see citing works

Single median maxillary central incisor: New data and mutation review

El-Jaick, K. B., Fonseca, R. F., Moreira, M. Â. M., Ribeiro, M. G., Bolognese, A. M., Dias, S. O., Pereira, E. T., Castilla, E. E., & Orioli, I. M. (2007) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20380 · Cited by 38 · see citing works

A novel SIX3 mutation segregates with holoprosencephaly in a large family

Solomon, B. D., Lacbawan, F. L., Jain, M., Domené, S., Roessler, E., Moore, C. A., Dobyns, W. B., & Muenke, M. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32813 · Cited by 39 · see citing works

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

Asadollahi, R., Strauss, J. E., Zenker, M., Beuing, O., Edvardson, S., Elpeleg, O. N., Strom, T. M., Joset, P., Niedrist, D., Otte, C., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-017-0019-9 · Cited by 36 · see citing works

Developmental Genes and Malformations in the Hypothalamus

Dı́az, C., & Puelles, L. (2020) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2020.607111 · Cited by 33 · see citing works

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies

Bakrania, P., İşerı̇, S. A. U., Wyatt, A. W., Bunyan, D., Lam, W. W. K., Salt, A., Ramsay, J. K., Robinson, D., & Ragge, N. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33239 · Cited by 34 · see citing works

Molecular testing in holoprosencephaly

Kruszka, P. S., Martinez, A. F., & Muenke, M. (2018) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31617 · Cited by 32 · see citing works

Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma

Gongal, P. A., French, C. R., & Waskiewicz, A. J. (2010) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2010.09.005 · Cited by 30 · see citing works

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly

Bertolacini, C. D. P., Richieri‐Costa, A., & Ribeiro, L. A. (2009) · Brain and Development · doi:10.1016/j.braindev.2009.02.014 · Cited by 30 · see citing works

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

Bendavid, C., Dubourg, C., Pasquier, L., Gicquel, I., Gallou, S. L., Mottier, S., Durou, M., Henry, C., Odent, S., & David, V. (2007) · Human Mutation · doi:10.1002/humu.20594 · Cited by 29 · see citing works

Roles for urothelium in normal and aberrant urinary tract development

Jackson, A. R., Ching, C. B., McHugh, K. M., & Becknell, B. (2020) · Nature Reviews Urology · doi:10.1038/s41585-020-0348-2 · Cited by 28 · see citing works

Mutational analyses of UPIIIA, SHH, EFNB2, and HNF1β in persistent cloaca and associated kidney malformations

Jenkins, D., Bitner-Glindzicz, M. A. K., Thomasson, L., Malcolm, S., WARNE, S. A., Feather, S. A., Flanagan, S. E., Ellard, S., Bingham, C., Santos, L. J. J., et al. (2006) · Journal of Pediatric Urology · doi:10.1016/j.jpurol.2006.03.002 · Cited by 28 · see citing works

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos

Mercier, S., David, V., Ratié, L., Gicquel, I., Odent, S., & Dupé, V. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.010132 · Cited by 28 · see citing works

SIX3 mutations with holoprosencephaly

Ribeiro, L. A., El-Jaick, K. B., Muenke, M., & Richieri‐Costa, A. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31377 · Cited by 28 · see citing works

De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf

Braun, M., Lehmbecker, A., Eikelberg, D. J., Hellige, M., Beineke, A., Metzger, J., & Distl, O. (2021) · BMC Genomics · doi:10.1186/s12864-020-07350-y · Cited by 27 · see citing works

The Homeodomain Transcription Factors Vax1 and Six6 Are Required for SCN Development and Function

Pandolfi, E. C., Breuer, J. A., Huu, V. A. N., Talluri, T., Nguyen, D., Lee, J. S., Hu, R. J., Bharti, K., Skowronska‐Krawczyk, D., Gorman, M. R., et al. (2019) · Molecular Neurobiology · doi:10.1007/s12035-019-01781-9 · Cited by 26 · see citing works

Of mitogens and morphogens: modelling Sonic Hedgehog mechanisms in vertebrate development

Groves, I., Placzek, M., & Fletcher, A. G. (2020) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2019.0660 · Cited by 26 · see citing works

Zic2 hypomorphic mutant mice as a schizophrenia model and ZIC2 mutations identified in schizophrenia patients

Hatayama, M., Ishiguro, A., Iwayama, Y., Takashima, N., Sakoori, K., Toyota, T., Nozaki, Y., Odaka, Y. S., Yamada, K., Yoshikawa, T., et al. (2011) · Scientific Reports · doi:10.1038/srep00016 · Cited by 25 · see citing works

The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes

Loo, C. K. C., Pearen, M. A., & Ramm, G. A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22189854 · Cited by 24 · see citing works

Development of the Pituitary Gland

Alatzoglou, K. S., Gregory, L. C., & Dattani, M. (2020) · Comprehensive physiology · doi:10.1002/j.2040-4603.2020.tb00113.x · Cited by 23 · see citing works

Histogenesis of retinal dysplasia in trisomy 13

Chan, A., Lakshminrusimha, S., Heffner, R. R., & Gonzalez-Fernandez, F. (2007) · Diagnostic Pathology · doi:10.1186/1746-1596-2-48 · Cited by 23 · see citing works

Nonsyndromic Microcephaly: An Overview

Leroy, J. G., & Frías, J. L. (2005) · Advances in Pediatrics · doi:10.1016/j.yapd.2005.04.003 · Cited by 21 · see citing works

Lineage-specific roles of hedgehog-GLI signaling during mammalian kidney development

D’Cruz, R., Stronks, K., Rowan, C. J., & Rosenblum, N. D. (2019) · Pediatric Nephrology · doi:10.1007/s00467-019-04240-8 · Cited by 21 · see citing works

Haploinsufficiency of SIX3 Abolishes Male Reproductive Behavior Through Disrupted Olfactory Development, and Impairs Female Fertility Through Disrupted GnRH Neuron Migration

Pandolfi, E. C., Hoffmann, H. M., Schoeller, E. L., Gorman, M. R., & Mellon, P. L. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-1013-0 · Cited by 20 · see citing works

The Risk of Recurrence of Holoprosencephaly in Euploid Fetuses

David, A. L., Gowda, V., Turnbull, C., & Chitty, L. S. (2007) · Obstetrics and Gynecology · doi:10.1097/01.aog.0000277633.21576.7e · Cited by 20 · see citing works

First trimester three‐dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus

Tonni, G., Ventura, A., Centini, G., & Felice, C. D. (2008) · Congenital Anomalies · doi:10.1111/j.1741-4520.2007.00171.x · Cited by 19 · see citing works

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1

Koolen, D. A., Herbergs, J. P. J., Veltman, J. A., Pfundt, R., van Bokhoven, H., Stroink, H., Sistermans, E. A., Brunner, H. G., van Kessel, A. G., & Vries, B. B. A. D. (2006) · Journal of Human Genetics · doi:10.1007/s10038-006-0010-8 · Cited by 19 · see citing works

Beneficial Effect of Supplemental Lipoic Acid on Diabetes‐Induced Pregnancy Loss in the Mouse

Rengasamy, P., Mohamed, S., & Singh, S. (2006) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1372.015 · Cited by 18 · see citing works

Holoprosencephaly: report of four cases and genotype–phenotype correlations

Lami, F., Carli, D., FERRARI, P., MARINI, M., Alesi, V., Iughetti, L., & Percesepe, A. (2013) · Journal of Genetics · doi:10.1007/s12041-013-0215-5 · Cited by 15 · see citing works

Expression of Six3 Opposite Strand (Six3OS) during mouse embryonic development

Geng, X., Lavado, A., Lagutin, O. V., Liu, W., & Oliver, G. C. (2006) · Gene Expression Patterns · doi:10.1016/j.modgep.2006.09.007 · Cited by 15 · see citing works

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

David, O., Eskin‐Schwartz, M., Ling, G., Dolgin, V., Kristal, E., Benkowitz, E., Osyntsov, L., Gradstein, L., Birk, O. S., Loewenthal, N., et al. (2020) · Clinical Genetics · doi:10.1111/cge.13805 · Cited by 13 · see citing works

Molecular analysis of holoprosencephaly in South America

Savastano, C. P., El-Jaick, K. B., Lima, M. A. C., Abath, C. M. B., Bianca, S., Cavalcanti, D. P., Félix, T. M., Scarano, G., Llerena, J. C., Vargas, F. R., et al. (2014) · Genetics and Molecular Biology · doi:10.1590/s1415-47572014000200011 · Cited by 13 · see citing works

Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly☆

Kauvar, E. F., Hu, P., Pineda‐Alvarez, D., Solomon, B. D., Dutra, A., Pak, E. D., Blessing, B., Proud, V. K., Shanske, A. L., & Stevens, C. A. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2010.12.008 · Cited by 12 · see citing works

Hedgehog proteins create a dynamic cholesterol interface

Mafi, A., Purohit, R., Vielmas, E., Lauinger, A. R., Lam, B., Cheng, Y.-S., Zhang, T., Huang, Y., Kim, S., Goddard, W. A., et al. (2021) · PLoS ONE · doi:10.1371/journal.pone.0246814 · Cited by 12 · see citing works

A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease

Chen, M., Kuo, S., Liu, C., Chen, W., Ko, T., Chen, T., Chang, S., Huang, C., Chang, Y., & Wang, B. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1385 · Cited by 11 · see citing works

Deletion of Six3 in post-proliferative neurons produces weakened SCN circadian output, improved metabolic function, and dwarfism in male mice

Meadows, J. D., Breuer, J. A., Lavalle, S. N., Hirschenberger, M. R., Patel, M. M., Nguyen, D., Kim, A., Cassin, J., Gorman, M. R., Welsh, D. K., et al. (2021) · Molecular Metabolism · doi:10.1016/j.molmet.2021.101431 · Cited by 10 · see citing works

Hedgehog-GLI mediated control of renal formation and malformation

Greenberg, D., D’Cruz, R., Lacanlale, J. L., Rowan, C. J., & Rosenblum, N. D. (2023) · Frontiers in Nephrology · doi:10.3389/fneph.2023.1176347 · Cited by 10 · see citing works

Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism

Li, J., Liu, D., Liu, Y., Zhang, C., & Zheng, S. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.780930 · Cited by 10 · see citing works

Disorders of Brain Size

Mirzaa, G., Ashwal, S., & Dobyns, W. B. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0435-8.00025-1 · Cited by 10 · see citing works

Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene

Savastano, C. P., Bernardi, P., Seuánez, H. N., Moreira, M. Â. M., & Orioli, I. M. (2014) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.23216 · Cited by 8 · see citing works

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

Vendramini‐Pittoli, S., Kokitsu‐Nakata, N. M., Zechi‐Ceide, R. M., Alvarez, C. W., Ribeiro, L. A., & Richieri‐Costa, A. (2016) · Journal of Pediatric Genetics · doi:10.1055/s-0036-1588028 · Cited by 8 · see citing works

Single‐nucleotide variants in two Hedgehog genes, SHH and HHIP , as genetic cause of combined pituitary hormone deficiency

del Blanco, D. G., de Graaff, L. C. G., Visser, T. J., & Hokken‐Koelega, A. C. S. (2012) · Clinical Endocrinology · doi:10.1111/cen.12000 · Cited by 8 · see citing works

Adrenocortical Growth and Cancer

Lefèvre, L., Bertherat, J. Y., & Ragazzon, B. (2014) · Comprehensive physiology · doi:10.1002/cphy.c140010 · Cited by 10 · see citing works

The etiopathologies of holoprosencephaly

Cordero, D. R., Tapadia, M. D., & Helms, J. A. (2005) · Drug Discovery Today Disease Mechanisms · doi:10.1016/j.ddmec.2005.10.004 · Cited by 7 · see citing works

Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly‐like phenotype

Santiago, G., Abramides, D. V. M., Maximino, L. P., Ribeiro, L. A., Meira, S. G., & Richieri‐Costa, A. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31311 · Cited by 7 · see citing works

Clinical Features and Outcomes of Holoprosencephaly in Korea

Ko, J. M., & Kim, S. H. (2010) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2010.05.001 · Cited by 6 · see citing works

RESEARCH ARTICLE Molecular Screening of SHH, ZIC2, SIX3, and TGIF Genes in Patients With Features of Holoprosence- phaly Spectrum: Mutation Review and Genotype–

Correlations, P., Caustres, C. M., Omim, Z., Af, G., & Omim, S. (2015)

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Paulussen, A. D. C., Schrander-Stumpel, C. T. R. M., Tserpelis, D., Spee, M. K. M., Stegmann, A. P. A., Mancini, G. M. S., Brooks, A. S., Collee, M. J., Maat‐Kievit, A., Simon, M., et al. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.70 · Cited by 41 · see citing works

New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases

Mercier, S., Dubourg, C., Garcelon, N., Campillo‐Gimenez, B., Gicquel, I., Belleguic, M., Ratié, L., Pasquier, L., Loget, P., Bendavid, C., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100339 · Cited by 109 · see citing works

Identification of novel mutations in SHH and ZIC2

Orioli, I. M., Castilla, E. E., Ming, J. E., NAZER, J., de Aguiar, M. J. B., Llerena, J. C., & Muenke, M. (2001)

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly

Bertolacini, C. D. P., Richieri‐Costa, A., & Ribeiro, L. A. (2009) · Brain and Development · doi:10.1016/j.braindev.2009.02.014 · Cited by 30 · see citing works