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1 . Academic Journal
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study
저자
by
Thomas Edouard
;
Marie-Christine Picot
;
Fernanda Bajanca
;
Helena Huguet
;
Aitor Guitarte
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
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7 . Academic Journal
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia
저자
by
Julie Plaisancié
;
Bertrand Chesneau
;
Lucas Fares-Taie
;
Jean-Michel Rozet
;
Jacmine Pechmeja
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2669 (2024)
Open Access (DOAJ)
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7 . Academic Journal
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
저자
by
Clarisse Billon
;
Salma Adham
;
Natalia Hernandez Poblete
;
Anne Legrand
;
Michael Frank
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Open Access (BioMed Central)
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Scopus
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7 . Academic Journal
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus
저자
by
Bertrand Chesneau
;
Aurélie Plancke
;
Guillaume Rolland
;
Bertrand Marcheix
;
Yves Dulac
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
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7 . Academic Journal
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature
저자
by
Bertrand Chesneau
;
Thomas Edouard
;
Yves Dulac
;
Hélène Colineaux
;
Maud Langeois
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
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7 .
First implication of
MIP
in bilateral microphthalmia with persistent fetal vasculature
저자
by
Mélissa Santorini
;
Bertrand Chesneau
;
Patricia Koskas‐Boublil
;
Florence Metge
;
Georges Caputo
, et al.
소스
American Journal of Medical Genetics Part A
. 191:1373-1377
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7 .
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
저자
by
Bertrand Chesneau
;
Véronique Ivashchenko
;
Christophe Habib
;
Véronique Gaston
;
Fréderic Escudié
, et al.
소스
Eur J Hum Genet
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7 .
First evidence of
SOX2
mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
저자
by
Bertrand Chesneau
;
Marion Aubert‐Mucca
;
Félix Fremont
;
Jacmine Pechmeja
;
Vincent Soler
, et al.
소스
Clinical Genetics
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩
Web of Science
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7 .
Mosaicism detection and impact in eye development anomalies
저자
by
Julie Plaisancié
;
Bertrand Chesneau
;
Véronique Ivashchenko
;
Christophe Habib
;
Véronique Gaston
, et al.
소스
Open Access (OpenAIRE)
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7 .
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders
저자
by
Thomas Edouard
;
Guillaume Rolland
;
Marion Aubert-Mucca
;
Thierry Lavabre-Bertrand
;
Nicolas Chassaing
, et al.
소스
European Journal of Human Genetics
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