The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Franco, B., Guioli, S., Pragliola, A., Incerti, B., Bardoni, B., Tonlorenzi, R., Carrozzo, R., Maestrini, E., Pieretti, M., Taillon-Miller, P., et al. (1991) · Nature · doi:10.1038/353529a0 · Cited by 846
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-269 · Cited by 614
Cited by
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
de Roux, N., Genin, E., Carel, J.-C., Matsuda, F., Chaussain, J.-L., & Milgrom, E. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1834399100 · Cited by 2,431
The Fibroblast Growth Factor signaling pathway
Ornitz, D. M., & Itoh, N. (2015) · WIREs Developmental Biology · doi:10.1002/wdev.176 · Cited by 2,050
The FGF family: biology, pathophysiology and therapy
Beenken, A., & Mohammadi, M. (2009) · Nature Reviews Drug Discovery · doi:10.1038/nrd2792 · Cited by 1,945
Boehm, U., Bouloux, P.-M., Dattani, M. T., de Roux, N., Dodé, C., Dunkel, L., Dwyer, A. A., Giacobini, P., Hardelin, J.-P., Juul, A., et al. (2015) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2015.112 · Cited by 874
Self-citationKallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2
Dodé, C., Teixeira, L., Levilliers, J., Fouveaut, C., Bouchard, P., Kottler, M.-L., Lespinasse, J., Lienhardt-Roussie, A., Mathieu, M., Moerman, A., et al. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020175 · Cited by 457
Self-citationDecreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
Falardeau, J., Chung, W. C. J., Beenken, A., Raivio, T., Plummer, L., Sidis, Y., Jacobson-Dickman, E. E., Eliseenkova, A. V., Ma, J., Dwyer, A., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34538 · Cited by 397
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
Pitteloud, N., Quinton, R., Pearce, S., Raivio, T., Acierno, J., Dwyer, A., Plummer, L., Hughes, V., Seminara, S., Cheng, Y.-Z., et al. (2007) · Journal of Clinical Investigation · doi:10.1172/jci29884 · Cited by 379
Genetic, environmental, and epigenetic factors involved in CAKUT
Nicolaou, N., Renkema, K. Y., Bongers, E. M. H. F., Giles, R. H., & Knoers, N. V. A. M. (2015) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.140 · Cited by 344
Kim, H.-G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.005 · Cited by 338
Gianetti, E., Tusset, C., Noel, S. D., Au, M. G., Dwyer, A. A., Hughes, V. A., Abreu, A. P., Carroll, J., Trarbach, E., Silveira, L. F. G., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2320 · Cited by 294
Determinants of Base Editing Outcomes from Target Library Analysis and Machine Learning
Arbab, M., Shen, M. W., Mok, B., Wilson, C., Matuszek, Ż., Cassa, C. A., & Liu, D. R. (2020) · Cell · doi:10.1016/j.cell.2020.05.037 · Cited by 294
Paediatric and adult-onset male hypogonadism
Salonia, A., Rastrelli, G., Hackett, G., Seminara, S. B., Huhtaniemi, I. T., Rey, R. A., Hellstrom, W. J. G., Palmert, M. R., Corona, G., Dohle, G. R., et al. (2019) · Nature Reviews Disease Primers · doi:10.1038/s41572-019-0087-y · Cited by 286
Matsumoto, S.-I., Yamazaki, C., Masumoto, K.-H., Nagano, M., Naito, M., Soga, T., Hiyama, H., Matsumoto, M., Takasaki, J., Kamohara, M., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0508881103 · Cited by 281
GnRH signaling, the gonadotrope and endocrine control of fertility
Bliss, S. P., Navratil, A. M., Xie, J., & Roberson, M. S. (2010) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2010.04.002 · Cited by 259
Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.008 · Cited by 267
Self-citationPitteloud, N., Zhang, C., Pignatelli, D., Li, J.-D., Raivio, T., Cole, L. W., Plummer, L., Jacobson-Dickman, E. E., Mellon, P. L., Zhou, Q.-Y., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707173104 · Cited by 264
TAC3 and TACR3 Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans
Young, J., Bouligand, J., Francou, B., Raffin-Sanson, M.-L., Gaillez, S., Jeanpierre, M., Grynberg, M., Kamenicky, P., Chanson, P., Brailly-Tabard, S., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2600 · Cited by 249
Self-citationPitteloud, N., Acierno, J. S., Meysing, A., Eliseenkova, A. V., Ma, J., Ibrahimi, O. A., Metzger, D. L., Hayes, F. J., Dwyer, A. A., Hughes, V. A., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0600962103 · Cited by 242
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome
Hanchate, N. K., Giacobini, P., Lhuillier, P., Parkash, J., Espy, C., Fouveaut, C., Leroy, C., Baron, S., Campagne, C., Vanacker, C., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002896 · Cited by 217
Self-citationCole, L. W., Sidis, Y., Zhang, C., Quinton, R., Plummer, L., Pignatelli, D., Hughes, V. A., Dwyer, A. A., Raivio, T., Hayes, F. J., et al. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2654 · Cited by 208
Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, F., Seminara, S., et al. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.04.021 · Cited by 198
Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.08.018 · Cited by 195
Tornberg, J., Sykiotis, G. P., Keefe, K., Plummer, L., Hoang, X., Hall, J. E., Quinton, R., Seminara, S. B., Hughes, V., Van Vliet, G., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1102284108 · Cited by 177
Pitteloud, N., Acierno, J. S., Meysing, A. U., Dwyer, A. A., Hayes, F. J., & Crowley, W. F. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1361 · Cited by 160
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1(KAL2): MUTATIONS IN BRIEF
Albuisson, J., Pêcheux, C., Carel, J.-C., Lacombe, D., Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., Matthijs, G., Wasniewska, M., et al. (2005) · Human Mutation · doi:10.1002/humu.9298 · Cited by 146
Self-citationGenetic approaches to stature, pubertal timing, and other complex traits
Palmert, M. R., & Hirschhorn, J. N. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00107-0 · Cited by 135
Genetic determinants of pubertal timing in the general population
Gajdos, Z. K. Z., Henderson, K. D., Hirschhorn, J. N., & Palmert, M. R. (2010) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2010.01.038 · Cited by 121
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
Monnier, C., Dodé, C., Fabre, L., Teixeira, L., Labesse, G., Pin, J.-P., Hardelin, J.-P., & Rondard, P. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn318 · Cited by 123
Self-citationMinireview: Recent Progress in Gonadotropin-Releasing Hormone Neuronal Migration
Tobet, S. A., & Schwarting, G. A. (2006) · Endocrinology · doi:10.1210/en.2005-1275 · Cited by 123
The recent genetics of hypogonadotrophic hypogonadism—novel insights and new questions
Semple, R. K., & Topaloglu, A. K. (2010) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2009.03687.x · Cited by 117
Kim, S. ‐., Hu, Y., Cadman, S., & Bouloux, P. (2008) · Journal of Neuroendocrinology · doi:10.1111/j.1365-2826.2007.01627.x · Cited by 87
Gill, J. C., Moenter, S. M., & Tsai, P.-S. (2004) · Endocrinology · doi:10.1210/en.2004-0214 · Cited by 81
Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review
Ribeiro, R. S., Vieira, T. C., & Abucham, J. (2007) · European Journal of Endocrinology · doi:10.1530/eje.1.02342 · Cited by 71
GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in KISS1/Kiss1
Chan, Y.-M., Broder-Fingert, S., Paraschos, S., Lapatto, R., Au, M., Hughes, V., Bianco, S. D. C., Min, L., Plummer, L., Cerrato, F., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-0518 · Cited by 68
Kallmann’s syndrome, a neuronal migration defect
Cariboni, A., & Maggi, R. (2006) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-005-5604-3 · Cited by 65
Jehee, F., Johnson, D., Alonso, L., Cavalcanti, D., De Sá Moreira, E., Alberto, F., Kok, F., Kim, C., Wall, S., Jabs, E., et al. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00438.x · Cited by 55
Gianetti, E., Hall, J. E., Au, M. G., Kaiser, U. B., Quinton, R., Stewart, J. A., Metzger, D. L., Pitteloud, N., Mericq, V., Merino, P. M., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1264 · Cited by 53
(2023) · doi:10.3390/vaccines11050919 · Cited by 50
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome
Leroy, C., Fouveaut, C., Leclercq, S., Jacquemont, S., Boullay, H. D., Lespinasse, J., Delpech, M., Dupont, J.-M., Hardelin, J.-P., & Dodé, C. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.15 · Cited by 48
Self-citationSecular trend of timing of puberty
Delemarre-van de Waal, H. (2005) · Endocrine Development · doi:10.1159/000084082 · Cited by 46
Herbison, A. E. (2007) · Hormone Research in Paediatrics · doi:10.1159/000110583 · Cited by 44
Ayari, B., & Soussi-Yanicostas, N. (2007) · Development Genes and Evolution · doi:10.1007/s00427-006-0125-0 · Cited by 36
Self-citationStamou, M. I., Cox, K. H., & Crowley, W. F. (2015) · Endocrine Reviews · doi:10.1210/er.2015-1045.2016.1.test · Cited by 32
Dhiman, P., Bhansali, A., Prasad, R., Dutta, P., Walia, R., & Ravikiran, M. (2011) · Andrologia · doi:10.1111/j.1439-0272.2010.01093.x · Cited by 3
Metadata
- Authors
- Dodé, C., Levilliers, J., Dupont, J.-M., De Paepe, A., Le Dû, N., Soussi-Yanicostas, N., Coimbra, R. S., Delmaghani, S., Compain-Nouaille, S., Baverel, F., Pêcheux, C., Le Tessier, D., Cruaud, C., Delpech, M., Speleman, F., Vermeulen, S., Amalfitano, A., Bachelot, Y., Bouchard, P., Cabrol, S., Carel, J.-C., Delemarre-van de Waal, H., Goulet-Salmon, B., Kottler, M.-L., Richard, O., Sanchez-Franco, F., Saura, R., Young, J., Petit, C., & Hardelin, J.-P.
- Venue
- Nature Genetics
- Published
- 2003-03-10
- Volume
- 33
- Issue
- 4
- Pages
- 463-465
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2061867414
- Cited by
- 827
- References
- 2
- FWCI
- 38.83
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
