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1 . Academic Journal
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
저자
by
Quilichini, Juliette
;
Perol, Sandrine
;
Cuisset, Laurence
;
Grotto, Sarah
;
Fouveaut, Corinne
, et al.
소스
American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-10, 10p
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7 . Academic Journal
Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology.
저자
by
Jordan, Pénélope
;
Verebi, Camille
;
Hervé, Bérénice
;
Perol, Sandrine
;
Chakhtoura, Zeina
, et al.
소스
Clinical Genetics
. Jul2024, Vol. 106 Issue 1, p102-108. 7p.
Web of Science
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7 . Academic Journal
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
저자
by
Jordan, Pénélope
;
Verebi, Camille
;
Perol, Sandrine
;
Grotto, Sarah
;
Fouveaut, Corinne
, et al.
소스
Journal of Assisted Reproduction & Genetics
. Jan2024, Vol. 41 Issue 1, p135-146. 12p.
Web of Science
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7 . Academic Journal
Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.
저자
by
Marcos, Séverine
;
Monnier, Carine
;
Rovira, Xavier
;
Fouveaut, Corinne
;
Pitteloud, Nelly
, et al.
소스
Human Molecular Genetics; 6/1/2017, Vol. 26 Issue 11, p2006-2017, 12p
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7 . Academic Journal
The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients
저자
by
Marcos, Séverine
;
Sarfati, Julie
;
Leroy, Chrystel
;
Fouveaut, Corinne
;
Parent, Philippe
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism
. Oct 01, 2014 99(10):E2138-E2143
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7 . Academic Journal
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
저자
by
Pasmant, Eric
;
Parfait, Béatrice
;
Luscan, Armelle
;
Goussard, Philippe
;
Briand-Suleau, Audrey
, et al.
소스
European Journal of Human Genetics
. May2015, Vol. 23 Issue 5, p596-601. 6p.
Web of Science
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7 . Academic Journal
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
저자
by
Vasson, Aurélie
;
Leroux, Céline
;
Orhant, Lucie
;
Boimard, Mathieu
;
Toussaint, Aurélie
, et al.
소스
European Journal of Human Genetics
. Sep2013, Vol. 21 Issue 9, p977-987. 11p. 3 Charts, 5 Graphs.
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7 . Academic Journal
Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness.
저자
by
Pingault, Veronique
;
Bodereau, Virginie
;
Baral, Viviane
;
Marcos, Severine
;
Watanabe, Yuli
, et al.
소스
American Journal of Human Genetics
. May2013, Vol. 92 Issue 5, p707-724. 18p.
Full Text (ScienceDirect)
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7 . Academic Journal
SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome.
저자
by
Hanchate, Naresh Kumar
;
Giacobini, Paolo
;
Lhuillier, Pierre
;
Parkash, Jyoti
;
Espy, Cécile
, et al.
소스
PLoS Genetics
. Aug2012, Vol. 8 Issue 8, Special section p1-9. 9p. 1 Diagram, 1 Chart, 2 Graphs, 1 Map.
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7 . Academic Journal
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.
저자
by
Leroy, Chrystel
;
Fouveaut, Corinne
;
Leclercq, Sandrine
;
Jacquemont, Sébastien
;
Boullay, Hélène Du
, et al.
소스
European Journal of Human Genetics
. Jul2008, Vol. 16 Issue 7, p865-868. 4p. 1 Diagram.
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