Found: 30
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Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2016, p. 4541, doi. 10.1210/jc.2016-2152
- By:
- Publication type:
- Article
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.
- Published in:
- 2016
- By:
- Publication type:
- journal article
New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression.
- Published in:
- 2015
- By:
- Publication type:
- Journal Article
First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0407-6
- By:
- Publication type:
- Article
Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069757
- By:
- Publication type:
- Article
Kallmann’s Syndrome: A Comparison of the Reproductive Phenotypes in Men Carrying KAL1 and FGFR1/KAL2 Mutations.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 758, doi. 10.1210/jc.2007-1168
- By:
- Publication type:
- Article
Kallmann syndrome: fibroblast growth factor signaling insufficiency?
- Published in:
- Journal of Molecular Medicine, 2004, v. 82, n. 11, p. 725, doi. 10.1007/s00109-004-0571-y
- By:
- Publication type:
- Article
Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 7, p. 1, doi. 10.1210/jendso/bvab032
- By:
- Publication type:
- Article
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 977, doi. 10.1038/ejhg.2012.279
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- Publication type:
- Article
Kallmann syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 139, doi. 10.1038/ejhg.2008.206
- By:
- Publication type:
- Article
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 865, doi. 10.1038/ejhg.2008.15
- By:
- Publication type:
- Article
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 51, doi. 10.1038/sj.ejhg.5200574
- By:
- Publication type:
- Article
Effect of ligand-affinity differences of human hemoglobin variants on electrophoretic behavior and their isolation and functional characterization.
- Published in:
- Electrophoresis, 1989, v. 10, n. 12, p. 853, doi. 10.1002/elps.1150101210
- By:
- Publication type:
- Article
Dramatic etanercept-induced remission of relapsing febrile sciatic neuralgia related to p46l mutation of the tnfrsf1a gene.
- Published in:
- 2007
- By:
- Publication type:
- Report
Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations.
- Published in:
- FASEB Journal, 2014, v. 28, n. 8, p. 3734, doi. 10.1096/fj.13-243402
- By:
- Publication type:
- Article
Level and composition of fetal hemoglobin expression in normal newborn babies are not dependent on β cluster DNA haplotype.
- Published in:
- American Journal of Hematology, 1990, v. 34, n. 3, p. 223, doi. 10.1002/ajh.2830340313
- By:
- Publication type:
- Article
Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 11, p. 2006, doi. 10.1093/hmg/ddx080
- By:
- Publication type:
- Article
Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2.
- Published in:
- PLoS Genetics, 2006, v. 3, n. 4, p. 1648, doi. 10.1371/journal.pgen.0020175
- By:
- Publication type:
- Article
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
- Published in:
- Human Mutation, 2007, v. 28, n. 1, p. 97, doi. 10.1002/humu.9470
- By:
- Publication type:
- Article
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 ( KAL2).
- Published in:
- Human Mutation, 2005, v. 25, n. 1, p. 98, doi. 10.1002/humu.9298
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- Publication type:
- Article
Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.
- Published in:
- Nephrology Dialysis Transplantation, 2002, v. 17, n. 7, p. 1212, doi. 10.1093/ndt/17.7.1212
- By:
- Publication type:
- Article
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 75, doi. 10.1093/hmg/ddn318
- By:
- Publication type:
- Article
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1317, doi. 10.1093/hmg/7.8.1317
- By:
- Publication type:
- Article
Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 12, p. 2173, doi. 10.1093/hmg/6.12.2173
- By:
- Publication type:
- Article
Mapping of DFNB12, a Gene for a Non-Syndromal Autosomal Recessive Deafness, to Chromosome 10q21–22.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1061, doi. 10.1093/hmg/5.7.1061
- By:
- Publication type:
- Article
PROK2/PROKR2 signaling and Kallmann syndrome.
- Published in:
- Frontiers in Endocrinology, 2013, v. 4, p. 1, doi. 10.3389/fendo.2013.00019
- By:
- Publication type:
- Article
Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication.
- Published in:
- Kidney International, 2001, v. 59, n. 5, p. 1677, doi. 10.1046/j.1523-1755.2001.0590051677.x
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- Publication type:
- Article
Rapid analysis of -α<sup>3.7</sup> thalassaemia and ααα<sup>anti 3.7</sup> triplication by enzymatic amplification analysis.
- Published in:
- British Journal of Haematology, 1993, v. 83, n. 1, p. 105, doi. 10.1111/j.1365-2141.1993.tb04639.x
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- Publication type:
- Article
Locus assignment of human a globin mutations by selective amplification and direct sequencing.
- Published in:
- British Journal of Haematology, 1990, v. 76, n. 2, p. 275, doi. 10.1111/j.1365-2141.1990.tb07884.x
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- Publication type:
- Article