Williams-Beuren Syndrome: A Model of Recurrent Genomic Mutation

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216 · see citing works

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

Ewart, A. K., Morris, C. A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A. D., Leppert, M., & Keating, M. T. (1993) · Nature Genetics · doi:10.1038/ng0993-11 · Cited by 1,138 · see citing works

Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands

Morita, K., Furuse, M., Fujimoto, K., & Tsukita, S. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.2.511 · Cited by 1,126 · see citing works

Supravalvular Aortic Stenosis

Williams, J. C. P., Barratt‐Boyes, B. G., & Lowe, J. B. (1961) · Circulation · doi:10.1161/01.cir.24.6.1311 · Cited by 1,063 · see citing works

Genome architecture, rearrangements and genomic disorders

Stankiewicz, P., & Lupski, J. R. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02592-1 · Cited by 915 · see citing works

Elastin is an essential determinant of arterial morphogenesis

Li, D. Y., Brooke, B. S., Davis, E. C., Mecham, R. P., Sorensen, L. K., Boak, B. B., EICHWALD, E. J., & Keating, M. T. (1998) · Nature · doi:10.1038/30522 · Cited by 789 · see citing works

I. The Neurocognitive Profile of Williams Syndrome: A Complex Pattern of Strengths and Weaknesses

Bellugi, U., Lichtenberger, L., Jones, W., Lai, Z. C., & George, M. S. (2000) · Journal of Cognitive Neuroscience · doi:10.1162/089892900561959 · Cited by 706 · see citing works

Abnormal Spine Morphology and Enhanced LTP in LIMK-1 Knockout Mice

Meng, Y., Zhang, Y., Tregoubov, V., Janus, C., Cruz, L., Jackson, M., Lu, W.-Y., MacDonald, J. F., Wang, J. Y., Falls, D. L., et al. (2002) · Neuron · doi:10.1016/s0896-6273(02)00758-4 · Cited by 688 · see citing works

Natural history of Williams syndrome: Physical characteristics

Morris, C. A., Demsey, S. A., Leonard, C. O., Dilts, C., & Blackburn, B. L. (1988) · The Journal of Pediatrics · doi:10.1016/s0022-3476(88)80272-5 · Cited by 670 · see citing works

Haploinsufficiency of NSD1 causes Sotos syndrome

Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., et al. (2002) · Nature Genetics · doi:10.1038/ng863 · Cited by 647 · see citing works

Extracellular matrix 4: The elastic fiber

Rosenbloom, J., Abrams, W. R., & Mecham, R. P. (1993) · The FASEB Journal · doi:10.1096/fasebj.7.13.8405806 · Cited by 618 · see citing works

LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition

Frangiskakis, J. M., Ewart, A. K., Morris, C. A., Mervis, C. Β., Bertrand, J., Robinson, B. F., Klein, B. P., Ensing, G. J., Everett, L. A., Green, E. D., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)80077-x · Cited by 555 · see citing works

Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance

Beuren, A. J., Apitz, J., & Harmjanz, D. (1962) · Circulation · doi:10.1161/01.cir.26.6.1235 · Cited by 499 · see citing works

Novel arterial pathology in mice and humans hemizygous for elastin.

Li, D. Y., Faury, G., Taylor, D. G., Davis, E. C., Boyle, W. A., Mecham, R. P., Stenzel, P., Boak, B. B., & Keating, M. T. (1998) · Journal of Clinical Investigation · doi:10.1172/jci4487 · Cited by 362 · see citing works

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., et al. (2001) · Nature Genetics · doi:10.1038/ng753 · Cited by 344 · see citing works

Segmental duplications: an 'expanding' role in genomic instability and disease

Emanuel, B. S., & Shaikh, T. H. (2001) · Nature Reviews Genetics · doi:10.1038/35093500 · Cited by 303 · see citing works

VI. Genome structure and cognitive map of Williams syndrome

Korenberg, J. R., Chen, X.-N., Hirota, H., Lai, Z., Bellugi, U., Burian, D., Roe, B., & Matsuoka, R. (2000) · Journal of Cognitive Neuroscience · doi:10.1162/089892900562002 · Cited by 285 · see citing works

Clostridium perfringens Enterotoxin Utilizes Two Structurally Related Membrane Proteins as Functional Receptors in Vivo

Katahira, J., Sugiyama, H., Inoue, N., Horiguchi, Y., Matsuda, M., & Sugimoto, N. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.42.26652 · Cited by 273 · see citing works

Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

Tassabehji, M., Metcalfe, K., Karmiloff‐Smith, A., Carette, M. J. M., Grant, J., Dennis, N. R., Reardon, W., Splitt, M. P., Read, A., & Donnai, D. (1999) · The American Journal of Human Genetics · doi:10.1086/302214 · Cited by 241 · see citing works

Williams-Beuren syndrome:genes and mechanisms

Francke, U. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.10.1947 · Cited by 238 · see citing works

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

Jurado, L. A. P., Peoples, R., Kaplan, P. B., Hamel, B. C. J., & Francke, U. (1996) · PubMed Central · Cited by 231 · see citing works

Towards the neural basis for hypersociability in a genetic syndrome

Bellugi, U., Adolphs, R., Cassady, C., & Chiles, M. (1999) · NeuroReport · doi:10.1097/00001756-199906030-00006 · Cited by 207 · see citing works

Health Care Supervision for Children With Williams Syndrome

Morris, C. A., Braddock, S. R., Chen, E., Trotter, T. L., Berry, S. A., Burke, L. W., Geleske, T. A., Hamid, R., Hopkin, R. J., Introne, W. J., et al. (2020) · PEDIATRICS · doi:10.1542/peds.2019-3761 · Cited by 201 · see citing works

Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications

Swillen, A., Vogels, A., Devriendt, K., & Fryns, J. P. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(200022)97:2 · Cited by 188 · see citing works

Configural and Local Processing of Faces in Children with Williams Syndrome

Deruelle, C., Mancini, J., Livet, M.-O., Cassé‐Perrot, C., & de Schonen, S. (1999) · Brain and Cognition · doi:10.1006/brcg.1999.1127 · Cited by 184 · see citing works

A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

Peoples, R., Franke, Y., Wang, Y.-K., Jurado, L. A. P., Paperna, T., Cisco, M. J., & Francke, U. (2000) · The American Journal of Human Genetics · doi:10.1086/302722 · Cited by 181 · see citing works

Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice

Hoogenraad, C. C., Koekkoek, B., Akhmanova, A. S., Krugers, H. J., Dortland, B. R., Miedema, M., van Alphen, A., Kistler, W. M., Jaegle, M., Koutsourakis, M., et al. (2002) · Nature Genetics · doi:10.1038/ng954 · Cited by 180 · see citing works

A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

Jurado, L. P. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.325 · Cited by 178 · see citing works

Williams syndrome: Autosomal dominant inheritance

Morris, C. A., Thomas, I. T., & Greenberg, F. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320470409 · Cited by 167 · see citing works

A Novel Human Gene,WSTF,Is Deleted in Williams Syndrome

Lu, X., Meng, X., Morris, C. A., & Keating, M. T. (1998) · Genomics · doi:10.1006/geno.1998.5578 · Cited by 160 · see citing works

A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23

Wang, Y.-K., Samos, C. H., Peoples, R., Pérez‐Jurado, L. A., Nusse, R., & Francke, U. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.3.465 · Cited by 160 · see citing works

III. Electrophysiological Studies of Face Processing in Williams Syndrome

Mills, D. L., Alvarez, T. D., George, M. S., Appelbaum, L. G., Bellugi, U., & Neville, H. J. (2000) · Journal of Cognitive Neuroscience · doi:10.1162/089892900561977 · Cited by 147 · see citing works

A Novel Family of Bromodomain Genes

Jones, M. H., Hamana, N., Nezu, J., & Shimane, M. (2000) · Genomics · doi:10.1006/geno.1999.6071 · Cited by 146 · see citing works

LIM–kinase deleted in Williams syndrome

Tassabehji, M., Metcalfe, K., Fergusson, W. D., Carette, M. J. M., Dore, J. K., Donnai, D., Read, A., Pröschel, C., Gutowski, N. J., Mao, X., et al. (1996) · Nature Genetics · doi:10.1038/ng0796-272 · Cited by 138 · see citing works

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

Urbán, Z., Helms, C. A., Fekete, G., Csiszár, K., Bonnet, D., Münnich, A., Donis-Keller, H., & Boyd, C. D. (1996) · PubMed Central · Cited by 137 · see citing works

Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients

Natter, S., Seiberler, S., Hufnagl, P., Binder, B. R., Hirschl, A. M., Ring, J., Abeck, D., Schmidt, T., Valent, P., & Valenta, R. (1998) · The FASEB Journal · doi:10.1096/fasebj.12.14.1559 · Cited by 130 · see citing works

Supravalvular aortic stenosis. Clinical and pathologic observations in six patients.

O’Connor, W. N., Jb, D., Geissler, R. H., Cottrill, C. M., Noonan, J. A., & Todd, E. P. (1985) · PubMed · Cited by 124 · see citing works

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

Dutly, F. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.12.1893 · Cited by 121 · see citing works

WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network

Cairo, S. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.6.617 · Cited by 120 · see citing works

Biochemistry and biology of the inducible multifunctional transcription factor TFII-I

Roy, A. L. (2001) · Gene · doi:10.1016/s0378-1119(01)00625-4 · Cited by 117 · see citing works

Functional analysis of CLIP-115 and its binding to microtubules

Hoogenraad, C. C., Akhmanova, A. S., Grosveld, F. G., Zeeuw, C. I. D., & Galjart, N. (2000) · Journal of Cell Science · doi:10.1242/jcs.113.12.2285 · Cited by 116 · see citing works

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

Meng, X., Lu, X., Li, Z., Green, E. D., Massa, H. F., Trask, B. J., Morris, C. A., & Keating, M. T. (1998) · Human Genetics · doi:10.1007/s004390050874 · Cited by 111 · see citing works

Identification of Genes from a 500-kb Region at 7q11.23 That Is Commonly Deleted in Williams Syndrome Patients

Osborne, L. R., Martindale, D. W., Scherer, S. W., Shi, X., Huizenga, J. J., Heng, H. H., Costa, T., Pober, B. R., Lew, L., Brinkman, J. N., et al. (1996) · Genomics · doi:10.1006/geno.1996.0469 · Cited by 109 · see citing works

Fine-Scale Comparative Mapping of the Human 7q11.23 Region and the Orthologous Region on Mouse Chromosome 5G: The Low-Copy Repeats That Flank the Williams–Beuren Syndrome Deletion Arose at Breakpoint Sites of an Evolutionary Inversion(s)

Valero, M. C., de Luis, O., Cruces, J., & Jurado, L. A. P. (2000) · Genomics · doi:10.1006/geno.2000.6312 · Cited by 105 · see citing works

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

Botta, A., Novelli, G., Mari, A., Novelli, A., Sabani, M., Korenberg, J. R., Osborne, L. R., Digilio, M. C., Giannotti, A., & Dallapiccola, B. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.6.478 · Cited by 93 · see citing works

Analysis of Cerebral Shape in Williams Syndrome

Schmitt, J. E., Eliez, S., Bellugi, U., & Reiss, A. L. (2001) · Archives of Neurology · doi:10.1001/archneur.58.2.283 · Cited by 89 · see citing works

The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.

Peoples, R., Pérez‐Jurado, L. A., Wang, Y.-K., Kaplan, P. B., & Francke, U. (1996) · PubMed Central · Cited by 88 · see citing works

The NADPH‐Dependent Oxidase of Phagocytes

Nauseef, W. M. (1999) · Proceedings of the Association of American Physicians · doi:10.1111/paa.1999.111.5.373 · Cited by 88 · see citing works

A Novel Human GeneFKBP6Is Deleted in Williams Syndrome

Meng, X., Lu, X., Morris, C. A., & Keating, M. T. (1998) · Genomics · doi:10.1006/geno.1998.5412 · Cited by 83 · see citing works

A Longitudinal Assessment of Diverging Verbal and Non-Verbal Abilities in the Williams Syndrome Phenotype

Jarrold, C., Baddeley, A., Hewes, A. K., & Phillips, C. E. (2001) · Cortex · doi:10.1016/s0010-9452(08)70583-5 · Cited by 82 · see citing works

Further Biochemical and Kinetic Characterization of Human Eukaryotic Initiation Factor 4H

Richter, N. J., Rogers, G. W., Hensold, J. O., & Merrick, W. C. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.50.35415 · Cited by 77 · see citing works

Generation and Comparative Analysis of ∼3.3 Mb of Mouse Genomic Sequence Orthologous to the Region of Human Chromosome 7q11.23 Implicated in Williams SyndromePreprint

DeSilva, U., Elnitski, L. L., Idol, J. R., Doyle, J. L., Gan, W., Thomas, J. W., Schwartz, S., Dietrich, N. L., Beckstrom‐Sternberg, S. M., McDowell, J. C., et al. (2002) · Genome Research · doi:10.1101/gr.214802 · Cited by 77 · see citing works

The RFC2 Gene, Encoding the Third-Largest Subunit of the Replication Factor C Complex, Is Required for an S-Phase Checkpoint in Saccharomyces cerevisiae

Noskov, V. N., Araki, H., & Sugino, A. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.8.4914 · Cited by 75 · see citing works

Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome

Partsch, C., Dreyer, G., Gosch, A., Winter, M., Schneppenheim, R., Wessel, A., & Pankau, R. (1999) · The Journal of Pediatrics · doi:10.1016/s0022-3476(99)70376-8 · Cited by 72 · see citing works

The Williams syndrome: Evidence for possible autosomal dominant inheritance

Sadler, L. S., Robinson, L. K., Verdaasdonk, K. R., & Gingell, R. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320470406 · Cited by 71 · see citing works

Identification of a Putative Transcription Factor Gene (WBSCR11) That Is Commonly Deleted in Williams–Beuren Syndrome

Osborne, L. R., Campbell, T., Daradich, A., Scherer, S. W., & Tsui, L. (1999) · Genomics · doi:10.1006/geno.1999.5784 · Cited by 68 · see citing works

WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog

de Luis, O., Valero, M. C., & Jurado, L. A. P. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200435 · Cited by 66 · see citing works

Comparative Mapping of the Region of Human Chromosome 7 Deleted in Williams SyndromePreprint

DeSilva, U., Massa, H. F., Trask, B. J., & Green, E. D. (1999) · Genome Research · doi:10.1101/gr.9.5.428 · Cited by 66 · see citing works

Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23

Franke, Y., Peoples, R., & Francke, U. (1999) · Cytogenetic and Genome Research · doi:10.1159/000015322 · Cited by 60 · see citing works

Contractures in Patients With Williams Syndrome

Kaplan, P. B., Kirschner, M. W., Watters, G. V., & Costa, M. T. (1989) · PEDIATRICS · doi:10.1542/peds.84.5.895 · Cited by 59 · see citing works

Differences by sex in cardiovascular disease in Williams syndrome

Sadler, L. S., Pober, B. R., Grandinetti, A., Scheiber, D., Fekete, G., Sharma, A. N., & Urbán, Z. (2001) · The Journal of Pediatrics · doi:10.1067/mpd.2001.118889 · Cited by 58 · see citing works

Molecular Dissection of DNA Sequences and Factors Involved in Slow Muscle-Specific Transcription

Calvo, S., Vullhorst, D., Venepally, P., Cheng, J., Karavanova, I. D., & Buonanno, A. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.24.8490-8503.2001 · Cited by 57 · see citing works

Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23

Peoples, R., Cisco, M. J., Kaplan, P. B., & Francke, U. (1998) · Cytogenetic and Genome Research · doi:10.1159/000015110 · Cited by 56 · see citing works

Calcium metabolism in Williams-Beuren syndrome

Kruse, K., Pankau, R., Gosch, A., & Wohlfahrt, K. (1992) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80336-1 · Cited by 52 · see citing works

Syntaxin 1A up-regulates GABA transporter expression by subcellular redistribution

Horton, M. W. Q. N. (2001) · Molecular Membrane Biology · doi:10.1080/09687680010029383 · Cited by 52 · see citing works

The BCL7 gene family: deletion of BCL7B in Williams syndrome

Jadayel, D. M., Osborne, L. R., Coignet, L., Zani, V. J., Tsui, L., Scherer, S. W., & Dyer, M. J. S. (1998) · Gene · doi:10.1016/s0378-1119(98)00514-9 · Cited by 51 · see citing works

Genes for the CPE Receptor (CPETR1) and the Human Homolog of RVP1 (CPETR2) Are Localized within the Williams–Beuren Syndrome Deletion

Paperna, T., Peoples, R., Wang, Y.-K., Kaplan, P. B., & Francke, U. (1998) · Genomics · doi:10.1006/geno.1998.5619 · Cited by 50 · see citing works

Integration of a c-myc Transgene Results in Disruption of the Mouse Gtf2ird1 Gene, the Homologue of the Human GTF2IRD1 Gene Hemizygously Deleted in Williams–Beuren Syndrome

Durkin, M. E., Keck-Waggoner, C. L., Popescu, N. C., & Thorgeirsson, S. S. (2001) · Genomics · doi:10.1006/geno.2001.6507 · Cited by 47 · see citing works

Cytogenetic and molecular studies of a familial paracentric inversion of Y chromosome present in a patient with ambiguous genitalia

Liou, J., Ma, Y.-Y., Gibson, L. H., Su, H., Charest, N. J., Lau, Y. C., & Yang‐Feng, T. L. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970516)70:2 · Cited by 47 · see citing works

Elastin Mutation and Cardiac Disease

Chowdhury, T., & Reardon, W. (1999) · Pediatric Cardiology · doi:10.1007/s002469900415 · Cited by 46 · see citing works

Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study

Mercuri, E. M., Atkinson, J., Braddick, O., Rutherford, M., Cowan, F. M., Counsell, S. J., Dubowitz, L. M. S., & Bydder, G. (1997) · European Journal of Paediatric Neurology · doi:10.1016/s1090-3798(97)80055-4 · Cited by 45 · see citing works

TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog

Jurado, L. A. P., Wang, Y.-K., Francke, U., & Cruces, J. (1999) · Cytogenetic and Genome Research · doi:10.1159/000015319 · Cited by 42 · see citing works

Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome

Cammareri, V., Vignati, G., Nocera, G., Beck‐Peccoz, P., & Persani, L. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990827)85:5 · Cited by 41 · see citing works

Williams syndrome: An historical perspective of its evolution, natural history, and etiology

Jones, K. L. (2005) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320370616 · Cited by 40 · see citing works

IMPAIRED CALCIUM HOMEOSTASIS IN THE INFANTILE HYPERCALCEMIC SYNDROME

Forbes, G. B., Bryson, M. F., MANNING, J. A., Amirhakimi, G. H., & Reina, J. C. (1972) · Acta Paediatrica · doi:10.1111/j.1651-2227.1972.tb16104.x · Cited by 36 · see citing works

Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families

Holberg, C. J., Erickson, R. P., Bernas, M. J., Witte, M. H., Fultz, K. E., Andrade, M., & Witte, C. L. (2001) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20010201)98:4 · Cited by 34 · see citing works

Cloning of the cDNA and sequence of the human proliferating-cell nucleolar protein P120.

Fonagy, A., Henning, D., Jhiang, S. M., Haidar, M. A., Busch, R. K., Larson, R. G., Valdez, B. S., & Busch, H. (1989) · PubMed · Cited by 26 · see citing works

Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome

Doyle, J. L., DeSilva, U., Miller, W., & Green, E. D. (2000) · Cytogenetic and Genome Research · doi:10.1159/000056790 · Cited by 20 · see citing works

Mypopathy in Williams-Beuren syndrome

Voït, T., Kramer, H.-H., Thomas, C., Wechsler, W., Reichmann, H., & Lenard, H. G. (1991) · European Journal of Pediatrics · doi:10.1007/bf01958438 · Cited by 18 · see citing works

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Williams–Beuren Syndrome

Pober, B. R. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0903074 · Cited by 848 · see citing works

Mutational Mechanisms of Williams-Beuren Syndrome Deletions

Bayés, M., Magano, L. F., Rivera, N. F., Flores, R., & Jurado, L. A. P. (2003) · The American Journal of Human Genetics · doi:10.1086/376565 · Cited by 337 · see citing works

The genomic basis of the Williams – Beuren syndrome

Schubert, C. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-008-8401-y · Cited by 236 · see citing works

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

Ashe, A., Morgan, D. K., Whitelaw, N. C., Bruxner, T. J., Vickaryous, N. K., Cox, L. L., Butterfield, N. C., Wicking, C., Blewitt, M. E., Wilkins, S. J., et al. (2008) · Genome Biology · doi:10.1186/gb-2008-9-12-r182 · Cited by 117 · see citing works

Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension

Campo, M. D., Antonell, A., Magano, L. F., Muñoz, F. J., Flores, R., Bayés, M., & Jurado, L. A. P. (2006) · The American Journal of Human Genetics · doi:10.1086/501073 · Cited by 117 · see citing works

The subcellular localization of the ChoRE-binding protein, encoded by the Williams–Beuren syndrome critical region gene 14, is regulated by 14-3-3

Merla, G., Howald, C., Antonarakis, S. E., & Reymond, A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh163 · Cited by 77 · see citing works

Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder

Puimedon, M. S., Sahún, I., Velot, É., Dubus, P. R., Borralleras, C., Rodrigues, A. J., Valero, M. C., Valverde, O., Sousa, N., Hérault, Y., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu368 · Cited by 69 · see citing works

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletionPreprint

Cuscó, I., Corominas, R., Bayés, M., Flores, R., Rivera‐Bruguès, N., Campuzano, V., & Jurado, L. A. P. (2008) · Genome Research · doi:10.1101/gr.073197.107 · Cited by 69 · see citing works

Relative sparing of primary auditory cortex in Williams Syndrome

Holinger, D. P., Bellugi, U., Mills, D. L., Korenberg, J. R., Reiss, A. L., Sherman, G. F., & Galaburda, A. M. (2005) · Brain Research · doi:10.1016/j.brainres.2004.11.038 · Cited by 65 · see citing works

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development

Palmer, S. J., Tay, E. S. E., Santucci, N., Cuc Bach, T. T., Hook, J., Lemckert, F. A., Jamieson, R. V., Gunnning, P. W., & Hardeman, E. C. (2007) · Gene Expression Patterns · doi:10.1016/j.modgep.2006.11.008 · Cited by 49 · see citing works

Common and distinct neural correlates of facial emotion processing in social anxiety disorder and Williams syndrome: A systematic review and voxel-based meta-analysis of functional resonance imaging studies

Binelli, C., Subirà, S., Batalla, A., Muñiz, A., Sugranyes, G., Crippa, J. A. S., Farré, M., Pérez‐Jurado, L. A., & Martín‐Santos, R. (2014) · Neuropsychologia · doi:10.1016/j.neuropsychologia.2014.08.027 · Cited by 46 · see citing works

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams–Beuren Syndrome

Borralleras, C., Sahún, I., Jurado, L. A. P., & Campuzano, V. (2015) · Molecular Therapy · doi:10.1038/mt.2015.130 · Cited by 45 · see citing works

Thyroid function and morphology in patients affected by Williams syndrome

Stagi, S., Bindi, G., Neri, A. S., Lapi, E., Losi, S., Jenuso, R., Salti, R., & Chiarelli, F. (2005) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2005.02365.x · Cited by 43 · see citing works

A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome

Porter, M. A., Dobson‐Stone, C., Kwok, J. B., Schofield, P. R., Beckett, W., & Tassabehji, M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0047457 · Cited by 39 · see citing works

Metabolic abnormalities in Williams–Beuren syndrome

Palacios-Verdú, M. G., Puimedon, M. S., Borralleras, C., Flores, R., Campo, M. D., Campuzano, V., & Jurado, L. A. P. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102713 · Cited by 38 · see citing works

A Role for the Chromatin‐Remodeling FactorBAZ1Ain Neurodevelopment

Zaghlool, A., Halvardson, J., Zhao, J., Etemadikhah, M., Kalushkova, A., Końska, K., Jernberg‐Wiklund, H., Thuresson, A., & Feuk, L. (2016) · Human Mutation · doi:10.1002/humu.23034 · Cited by 37 · see citing works

Essential role of the N-terminal region of TFII-I in viability and behavior

Lucena, J., Pezzi, S., Aso, E., Valero, M. C., Carreiro, C., Dubus, P. R., Sampaio, A., Puimedon, M. S., Barthelemy, I., Zindel, M. Y., et al. (2010) · BMC Medical Genetics · doi:10.1186/1471-2350-11-61 · Cited by 37 · see citing works

Facial emotion processing in patients with social anxiety disorder and Williams–Beuren syndrome: an fMRI study

Binelli, C., Muñiz, A., Subirà, S., Navinés, R., Blanco‐Hinojo, L., Pérez-García, D., Crippa, J. A. S., Farré, M., Jurado, L. A. P., Pujol, J., et al. (2016) · Journal of Psychiatry and Neuroscience · doi:10.1503/jpn.140384 · Cited by 29 · see citing works

GTF2IRD2 is located in the Williams–Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix–loop–helix repeats

Makeyev, A. V., Erdenechimeg, L., Mungunsukh, O., Roth, J. J., Enkhmandakh, B., Ruddle, F. H., & Bayarsaihan, D. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404150101 · Cited by 32 · see citing works

Molecular Basis of Williams-Beuren Syndrome: TFII-I Regulated Targets Involved in Craniofacial Development

Makeyev, A. V., & Bayarsaihan, D. (2010) · The Cleft Palate-Craniofacial Journal · doi:10.1597/09-093 · Cited by 31 · see citing works

Williams-Beuren syndrome: Determination of deletion size using quantitative real-time PCR

Schubert, C., & Laccone, F. A. (2006) · International Journal of Molecular Medicine · doi:10.3892/ijmm.18.5.799 · Cited by 26 · see citing works

Chromatin remodeling factor BAZ1A regulates cellular senescence in both cancer and normal cells

Li, X., Ding, D., Yao, J., Zhou, B., Shen, T., Qi, Y., Ni, T., & Wei, G. (2019) · Life Sciences · doi:10.1016/j.lfs.2019.05.023 · Cited by 25 · see citing works

Cannabinoid signaling modulation through JZL184 restores key phenotypes of a mouse model for Williams–Beuren syndrome

Navarro-Romero, A., Galera-López, L., Ortiz‐Romero, P., Llorente‐Ovejero, A., Reyes‐Ramírez, L. D. L., de Tena, I. B., García-Elías, A., Mas‐Stachurska, A., Reixachs‐Solé, M., Pastor, A., et al. (2022) · eLife · doi:10.7554/elife.72560 · Cited by 24 · see citing works

Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

Stasia, M. J., Mollin, M., Martel, C., Satre, V., Coutton, C., Amblard, F., Vieville, G., van Montfrans, J. M., Boelens, J. J., Veenstra‐Knol, H. E., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.310 · Cited by 22 · see citing works

Genotype–phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams‐Beuren syndrome

Ghaffari, M., Birgani, M. T., Kariminejad, R., & Saberi, A. (2018) · Annals of Human Genetics · doi:10.1111/ahg.12278 · Cited by 18 · see citing works

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome

Stagi, S., Lapi, E., D'Avanzo, M., Perferi, G., Romano, S., Giglio, S., Ricci, S., Azzari, C., Chiarelli, F., Seminara, S., et al. (2014) · BMC Medical Genetics · doi:10.1186/1471-2350-15-61 · Cited by 17 · see citing works

Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins

Li, J., Zhao, G., & Gao, X. (2013) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-5-4 · Cited by 16 · see citing works

Drosophila Model for the Analysis of Genesis of LIM-kinase 1-Dependent Williams-Beuren Syndrome Cognitive Phenotypes: INDELs, Transposable Elements of the Tc1/Mariner Superfamily and MicroRNAs

Savvateeva-Popova, E. V., Zhuravlev, A. V., Brázda, V., Zakharov, G. A., Kaminskaya, A. N., Медведева, А. В., Nikitina, E. A., Tokmacheva, E. V., Dolgaya, J. F., Kulikova, D. A., et al. (2017) · Frontiers in Genetics · doi:10.3389/fgene.2017.00123 · Cited by 16 · see citing works

Evaluating quality of life in families with Williams Syndrome patients

Sepúlveda, E. M., Arana, M., & López, P. B. (2021) · Health and Quality of Life Outcomes · doi:10.1186/s12955-021-01704-0 · Cited by 15 · see citing works

Transcriptome profile in Williams–Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits

Antonell, A., Vilardell, M., & Jurado, L. A. P. (2010) · Human Genetics · doi:10.1007/s00439-010-0817-4 · Cited by 15 · see citing works

Epigenetic modulation by TFII‐I during embryonic stem cell differentiation

Bayarsaihan, D., Makeyev, A. V., & Enkhmandakh, B. (2012) · Journal of Cellular Biochemistry · doi:10.1002/jcb.24202 · Cited by 14 · see citing works

Solution structure of the general transcription factor 2I domain in mouse TFII‐I protein

Doi-Katayama, Y., Hayashi, F., Inoue, M., Yabuki, T., Aoki, M., Seki, E., Matsuda, T., Kigawa, T., Yoshida, M., Shirouzu, M., et al. (2007) · Protein Science · doi:10.1110/ps.072792007 · Cited by 12 · see citing works

Lateral preference in Williams–Beuren syndrome is associated with cognition and language

Pérez-García, D., Flores, R., Gasca, C. B. I., & Pérez‐Jurado, L. A. (2014) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-014-0652-6 · Cited by 11 · see citing works

Behavioral Profiles of Children With Williams Syndrome From Spain and the United States: Cross-Cultural Similarities and Differences

Pérez-García, D., Gasca, C. B. I., Jurado, L. A. P., & Mervis, C. Β. (2017) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-122.2.156 · Cited by 11 · see citing works

Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?

Gregori, M. D., Pramparo, T., Memo, L., Gimelli, G., Messa, J., Rocchi, M., Patricelli, M. G., Ciccone, R., Giorda, R., & Zuffardi, O. (2005) · Human Genetics · doi:10.1007/s00439-005-0008-x · Cited by 8 · see citing works

Late phonological development in Williams syndrome

Perez, V. M., Martínez, V., & Itza, E. D. (2022) · Frontiers in Psychology · doi:10.3389/fpsyg.2022.992512 · Cited by 6 · see citing works

Síndrome de Williams-Beuren: presentación de 82 casos

Pascual-Castroviejo, I., Pascual, S. I. P., Granado, F. M., Garcı́a-Guereta, L., Gracia‐Bouthelier, R., Torres, M. N., Navarro, A. D., López-Pajares, D., & Luaces, R. P. (2004) · Anales de Pediatría · doi:10.1016/s1695-4033(04)78322-8 · Cited by 4 · see citing works

Clinical and genetic characteristics of two cases with Williams-Beuren syndrome

Wang, L.-X., Leng, J., Li, Z., Li, Y., Gou, P., Tang, F. X., Su, N., Gong, C., & Cheng, X. (2021) · Translational Pediatrics · doi:10.21037/tp-21-161 · Cited by 3 · see citing works

Metabolomic profiles in serum uncover novel biomarkers in children with Williams–Beuren syndrome

Bai, G., Chen, W., Ji, C., Yang, Y., Shen, J., Li, F., Yang, W., Tan, D. J., Jiang, X., Xiao, Y., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-94018-w · Cited by 1 · see citing works

Análise de marcadores moleculares para o diagnóstico da síndrome de Williams-Beuren

Dutra, R. L. (2011) · doi:10.11606/d.5.2011.tde-04082011-132809

Metabolic and Autoimmune Syndromes

Nannini, V. L. (2014) · Atlas of the Oral and Maxillofacial Surgery Clinics · doi:10.1016/j.cxom.2014.05.005

Evolució molecular i estudi funcional de gens localitzats a les duplicacions segmentàries de la regió 7q11.23

Boixader, A. A. (2006) · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)

Molekularzytogenetische Analysen zur Bedeutung des Inversionspolymorphismus in der Chromosomenregion 7q11.23 für die Entstehung des Williams-Beuren-Syndroms.

Frohnauer, J. (2011) · Multimedialen Archiv und Publikationsserver der Christian-Albrechts-Universität zu Kiel (Christian-Albrechts-Universität zu Kiel)

Acontecimientos vitales estresantes, perfil de personalidad y correlatos neurales en la ansiedad social

Binelli, C. (2014) · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)

Williams Syndrome

(2006) · Humana Press eBooks · doi:10.1007/978-1-60327-161-5_196

Williams Syndrome

Chen, H. (2017) · Springer eBooks · doi:10.1007/978-1-4939-2401-1_246

Williams Syndrome

Chen, H. (2012) · Springer eBooks · doi:10.1007/978-1-4614-1037-9_246

Williams Syndrome

Chen, H. (2016) · Springer eBooks · doi:10.1007/978-1-4614-6430-3_246-2

Longitudinal profiles of late phonological development in children with Williams syndrome

Martínez, V., Perez, V. M., Antón, M. A., Miranda, M., & Vergara, P. (2024) · Frontiers in Communication · doi:10.3389/fcomm.2024.1386899

The genomic basis of the Williams – Beuren syndrome

Schubert, C. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-008-8401-y · Cited by 236 · see citing works

Molecular Genetics of Williams–Beuren Syndrome

Merla, G., Micale, L., Fusco, C., & Loviglio, M. N. (2012) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0022436 · Cited by 1 · see citing works

Williams-Beuren syndrome:genes and mechanisms

Francke, U. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.10.1947 · Cited by 238 · see citing works

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Ferrero, G. B., Howald, C., Micale, L., Biamino, E., Augello, B., Fusco, C., Turturo, M. G., Forzano, S., Reymond, A., & Merla, G. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.108 · Cited by 110 · see citing works

Williams–Beuren syndrome: novel risk alleles in transmitting parents

Babatz, T. D., & Kumar, R. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01084_2.x