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159 results on '"Anne Guiochon-Mantel"'

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1. Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory

2. Loss of lysine demethylase KDM1A in GIP-dependent bilateral macronodular adrenal hyperplasia with Cushing's syndrome

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3. A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

4. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

5. Analyse du locus CYP21A2 par séquençage nouvelle génération : vers un nouveau standard pour le diagnostic moléculaire des blocs en 21-hydroxylase ?

6. Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study

7. Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome

8. Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome

9. Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused byGNRHRmutations and women with polycystic ovary syndrome

10. Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation)

11. Clin Endocrinol (Oxf)

13. Women Epidemiology Lung Cancer (WELCA) study: reproductive, hormonal, occupational risk factors and biobank

14. Analyse structurale de l’impact d’une nouvelle mutation du gène du récepteur des androgènes chez deux patients adultes atteints d’une forme légère du syndrome d’insensibilité aux androgènes

15. Testosterone Level and Cause-Specific Mortality in Older Men without Metabolic Syndrome

16. Three Novel Heterozygous Point Mutations ofNR3C1Causing Glucocorticoid Resistance

17. NOBOXis a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

18. Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure

19. Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts

20. Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue

21. Testosterone and All-Cause Mortality in Older Men: The Role of Metabolic Syndrome

22. Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study

23. Significant prevalence of

24. GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing

25. Identification of a new glucocorticoid receptor mutation underscores the substantial prevalence of genetic NR3C1 alterations in adrenal hyperplasia: the French National Research Program MUTA-GR

26. New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family

27. Genetic mutations in sporadic pituitary adenomas—what to screen for?

28. Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism

29. High plasma estradiol interacts with diabetes on risk of dementia in older postmenopausal women

30. Progesterone receptor isoforms PRA and PRB differentially contribute to breast cancer cell migration through interaction with focal adhesion kinase complexes

31. Sex hormone-binding globulin and thrombin generation in women using hormonal contraception

32. Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome

33. Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation

34. Germline AIP Mutations in Apparently Sporadic Pituitary Adenomas: Prevalence in a Prospective Single-Center Cohort of 443 Patients

35. SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

36. Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility

37. Les mutations bialléliques du récepteur à la GnRH (Mut-GNRHR) chez la femme : un diagnostic différentiel du syndrome des ovaires polymicrokystiques (SOPK)

38. Prévalence des anomalies du gène de la plexine A1 dans une série de 286 patients avec hypogonadisme hypogonadotropique congénital (HHC) et syndrome de Kallmann (SK)

39. p38 and p42/44 MAPKs Differentially Regulate Progesterone Receptor A and B Isoform Stabilization

40. Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2

41. Genetics defects in GNRH1: A paradigm of hypothalamic congenital gonadotropin deficiency

42. Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome

43. TAC3andTACR3Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans

44. Congenital hypogonadotropic hypogonadism in females: Clinical spectrum, evaluation and genetics

45. Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships

47. Ginecología endocrina: métodos de determinación, exploración dinámica y molecular

48. Isolated Familial Hypogonadotropic Hypogonadism and aGNRH1Mutation

49. Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance

50. Human fetal testis: source of estrogen and target of estrogen action