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Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
- Published in:
- 1999
- By:
- Publication type:
- journal article
IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 6, p. 626, doi. 10.15252/emmm.201606250
- By:
- Publication type:
- Article
NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 5, p. 608, doi. 10.1111/cge.12750
- By:
- Publication type:
- Article
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype.
- Published in:
- European Journal of Neurology, 2017, v. 24, n. 3, p. e15, doi. 10.1111/ene.13250
- By:
- Publication type:
- Article
Mechanisms Controlling the Cellular Traffic and the Concentration of the Progesterone Receptor.
- Published in:
- Annals of the New York Academy of Sciences, 1993, v. 684, n. 1, p. 11, doi. 10.1111/j.1749-6632.1993.tb32267.x
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- Publication type:
- Article
Kisspeptin Restores Pulsatile LH Secretion in Patients with Neurokinin B Signaling Deficiencies: Physiological, Pathophysiological and Therapeutic Implications.
- Published in:
- Neuroendocrinology, 2013, v. 97, n. 2, p. 193, doi. 10.1159/000336376
- By:
- Publication type:
- Article
Low testosterone and the risk of dementia in elderly men: Impact of age and education.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, n. 5, p. S306, doi. 10.1016/j.jalz.2013.06.006
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- Publication type:
- Article
Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Macroprolactinomas in children and adolescents: factors associated with the response to treatment in 77 patients.
- Published in:
- 2015
- By:
- Publication type:
- Journal Article
Plasma estrogen levels, estrogen receptor gene variation, and ischemic arterial disease in postmenopausal women: the three-city prospective cohort study.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Analysis of AP2S1, a Calcium-Sensing Receptor Regulator, in Familial and Sporadic Isolated Hypoparathyroidism.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
NR5A1 (SF-1) Mutations Are Not a Major Cause of Primary Ovarian Insufficiency.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
R31C <i>GNRH1</i> Mutation and Congenital Hypogonadotropic Hypogonadism.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069616
- By:
- Publication type:
- Article
Two Families with Normosmic Congenital Hypogonadotropic Hypogonadism and Biallelic Mutations in KISS1R (KISS1 Receptor): Clinical Evaluation and Molecular Characterization of a Novel Mutation.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053896
- By:
- Publication type:
- Article
Differential Regulation of Breast Cancer-Associated Genes by Progesterone Receptor Isoforms PRA and PRB in a New Bi-Inducible Breast Cancer Cell Line.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045993
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- Publication type:
- Article
Congenital Hypogonadotropic Hypogonadism Due to GNRH Receptor Mutations in Three Brothers Reveal Sites Affecting Conformation and Coupling.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038456
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- Publication type:
- Article
Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0025614
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- Publication type:
- Article
Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013563
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- Publication type:
- Article
THE HYPOPHYSIOTROPIC NEUROPEPTIDE GnRH VALIDATED AS THE CONDUCTOR OF PUBERTY AND REPRODUCTION IN HUMANS.
- Published in:
- Acta Endocrinologica (1841-0987), 2010, v. 6, n. 3, p. 355, doi. 10.4183/aeb.2010.355
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- Publication type:
- Article
Effect of NFE2L2 Genetic Polymorphism on the Association Between Oral Estrogen Therapy and the Risk of Venous Thromboembolism in Postmenopausal Women.
- Published in:
- Clinical Pharmacology & Therapeutics, 2011, v. 89, n. 1, p. 60, doi. 10.1038/clpt.2010.241
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- Publication type:
- Article
TAC3 and TACR3 Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 5, p. 2287, doi. 10.1210/jc.2009-2600
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- Publication type:
- Article
A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 2, p. 659, doi. 10.1210/jc.2009-0843
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- Publication type:
- Article
Synergism between Oral Estrogen Therapy and Cytochrome P450 3A5*1 Allele on the Risk of Venous Thromboembolism among Postmenopausal Women.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 9, p. 3082, doi. 10.1210/jc.2008-0450
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- Publication type:
- Article
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot–Marie–Tooth presentation.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 6, p. 655, doi. 10.1007/s00415-005-0712-4
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- Publication type:
- Article
The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.
- Published in:
- Journal of Neurology, 2001, v. 248, n. 9, p. 795
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- Publication type:
- Article
Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings.
- Published in:
- Journal of Neurology, 2001, v. 248, n. 3, p. 193, doi. 10.1007/s004150170225
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- Publication type:
- Article
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.
- Published in:
- Andrologia, 2021, v. 53, n. 1, p. 1, doi. 10.1111/and.13865
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- Publication type:
- Article
The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 220, doi. 10.1038/sj.ejhg.5201132
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- Publication type:
- Article
Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 3, p. R55, doi. 10.1530/EJE-17-0749
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- Publication type:
- Article
Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 4, p. 411, doi. 10.1530/EJE-17-1071
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- Publication type:
- Article
Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas.
- Published in:
- European Journal of Endocrinology, 2016, v. 174, n. 4, p. 523, doi. 10.1530/EJE-15-1044
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- Publication type:
- Article
Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure.
- Published in:
- European Journal of Endocrinology, 2009, v. 161, n. 1, p. 179, doi. 10.1530/EJE-09-0231
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- Publication type:
- Article
Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.
- Published in:
- 2019
- By:
- Publication type:
- journal article
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
- Published in:
- Human Reproduction, 2012, v. 27, n. 5, p. 1460, doi. 10.1093/humrep/des022
- By:
- Publication type:
- Article
Potential Role of In Vivo Confocal Microscopy for Imaging Corneal Nerves in Transthyretin Familial Amyloid Polyneuropathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Women Epidemiology Lung Cancer (WELCA) study: reproductive, hormonal, occupational risk factors and biobank.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Human fetal testis: source of estrogen and target of estrogen action.
- Published in:
- Human Reproduction, 2007, v. 22, n. 7, p. 1885, doi. 10.1093/humrep/dem091
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- Publication type:
- Article
Testosterone levels and cause-specific mortality in the older French men without metabolic syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Upper limb onset of hereditary transthyretin amyloidosis is common in non‐endemic areas.
- Published in:
- European Journal of Neurology, 2019, v. 26, n. 3, p. 497, doi. 10.1111/ene.13845
- By:
- Publication type:
- Article
Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Prenatal Molecular Diagnosis of Inherited Cholestatic Diseases.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2007, v. 44, n. 4, p. 453, doi. 10.1097/MPG.0b013e318036a569
- By:
- Publication type:
- Article
RANK (receptor activator of nuclear factor-κB) and RANKL expression in multiple myeloma.
- Published in:
- British Journal of Haematology, 2002, v. 117, n. 1, p. 86, doi. 10.1046/j.1365-2141.2002.03417.x
- By:
- Publication type:
- Article
Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders.
- Published in:
- Pediatric Blood & Cancer, 2008, v. 50, n. 4, p. 908, doi. 10.1002/pbc.21255
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- Publication type:
- Article
Cover Image, Volume 37, Issue 8.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. i, doi. 10.1002/humu.23039
- By:
- Publication type:
- Article
Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 794, doi. 10.1002/humu.23008
- By:
- Publication type:
- Article
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1239, doi. 10.1002/humu.21563
- By:
- Publication type:
- Article
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
- Published in:
- 2009
- By:
- Publication type:
- Other
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 318, doi. 10.3390/genes13020318
- By:
- Publication type:
- Article