Detalhe da pesquisa
1.
Pathological spectrum of hereditary transthyretin renal amyloidosis and clinicopathologic correlation: a French observational study.
Nephrol Dial Transplant
; 38(9): 2019-2030, 2023 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646436
2.
A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.
Clin Genet
; 101(2): 242-246, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697795
3.
Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait.
J Med Genet
; 2020 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32482800
4.
The Roles of Luteinizing Hormone, Follicle-Stimulating Hormone and Testosterone in Spermatogenesis and Folliculogenesis Revisited.
Int J Mol Sci
; 22(23)2021 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884539
5.
Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency.
Mol Genet Genomics
; 294(6): 1527-1534, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363903
6.
Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency.
Hum Genet
; 140(4): 691-694, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33151384
7.
Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France.
Ann Neurol
; 78(6): 901-16, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26369527
8.
Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?
Hum Mutat
; 41(9): 1697-1699, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32851770
9.
Claudin-1 gene variants and susceptibility to hepatitis C infection in HIV-1 infected intravenous drug users (an ANRS case-control study).
J Med Virol
; 87(4): 619-24, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25611191
10.
Normal spermatogenesis in a man with mutant luteinizing hormone.
N Engl J Med
; 361(19): 1856-63, 2009 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19890128
11.
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome).
Ann Endocrinol (Paris)
; 82(6): 555-571, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508691
12.
A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242235
13.
A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro.
Int J Mol Med
; 41(2): 640-648, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29207017
14.
Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.
Trends Endocrinol Metab
; 29(6): 400-419, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706485
15.
Familial amyloid polyneuropathy associated with nodular lumbosacral radiculoplexopathy.
J Peripher Nerv Syst
; 17(1): 138-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22462677
16.
ß-Klotho sustains postnatal GnRH biology and spins the thread of puberty.
EMBO Mol Med
; 9(10): 1334-1337, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28778954
17.
Genetics of primary ovarian insufficiency: a careful step-by-step approach based on solid foundations to bring new knowledge.
Fertil Steril
; 118(2): 421-424, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35773086
18.
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
Elife
; 62017 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29231814
19.
Corrigendum to "ATP7B variant spectrum in a French pediatric Wilson disease cohort" [Eur. J. Med. Genet. 64 (10) (October 2021) 104305].
Eur J Med Genet
; 65(3): 104453, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35183456
20.
Late onset of Wilson's disease in a family with genetic haemochromatosis.
Eur J Gastroenterol Hepatol
; 18(1): 43-7, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16357618