|
|
Isolated familial choanal atresia: a new entity in the phenotypic spectrum of KMT2D gene
A. Garde
,
F. Tran Mau-Them
,
S. Nambot
,
M. Fradin
,
S. Odent
et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.455-455
Journal articles
hal-03131652v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis
F. Démurger
,
L. Pasquier
,
C. Dubourg
,
V. Dupé
,
I. Gicquel
et al.
Journal articles
hal-01064054v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Prenatal diagnosis of isolated Congenital Heart Defects: results of a prospective study genome-wide high resolution array-CGH versus karyotyping and 22q11 FISH
L. Pasquier
,
F. Roblot
,
E. Launay
,
M. Fradin
,
C. Quelin
et al.
European Journal of Human Genetics, 2019, 27, pp.1815-1816
Journal articles
hal-02355981v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder
J. den Hoed
,
E. de Boer
,
N. Voisin
,
N. Guex
,
L. Snijders Blok
et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.32-33
Journal articles
hal-03131485v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Intellectual functioning of adults with Silver-Russell syndrome due to IGF2/H19 hypomethylation in the 11p15 region
M. Burgevin
,
A. Lacroix
,
G. Brown
,
M. Mikaty
,
A. Toutain
et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.795-796
Journal articles
hal-03131672v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes
Y. Duffourd
,
E. Tisserant
,
A. Plagos
,
P. Callier
,
F. Mau Tran-Them
et al.
European Journal of Human Genetics, 2019, 27, pp.1700-1701
Journal articles
hal-02355733v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples
L. Mary
,
M. Fradin
,
L. Pasquier
,
C. Quélin
,
P. Loget
et al.
Journal articles
hal-04066527v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
A new case of Kaufman Oculocerebrofacial Syndrome caused by two new splicing variants in UBE3B.
K. Uguen
,
C. Ka
,
M. Planes
,
S. Audebert-Bellanger
,
S. Redon
et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.366-367
Journal articles
hal-03131644v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Recessive inheritance of DISP1 variants in holoprosencephaly spectrum patients
A. Lavillaureix
,
C. Dubourg
,
C. Quelin
,
B. Keren
,
S. Whalen
et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.912-912
Journal articles
hal-03131723v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Fetal costello syndrome with neuromuscular spindle excess and p.Gly12Val HRAS mutation
C. Quélin
,
P. Loget
,
C. Rozel
,
D. d'Hervé
,
M. Fradin
et al.
Journal articles
hal-01721406v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P. Callier
,
B. Aral
,
N. Hanna
,
S. Lambert
,
H. Dindy
et al.
Journal articles
hal-01068032v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene
C. Coutton
,
B. Poreau
,
F. Devillard
,
C. Durand
,
S. Odent
et al.
Journal articles
hal-01064850v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Loss-of-function mutation of TRIP4 causes a novel form of congenital muscle disease and reveals the transcription coactivator ASC-1 as a new regulator of skeletal myogenesis
L. Davignon
,
C. Chauveau
,
C. Julien
,
C. Dill
,
L. Duband-Goulet
et al.
Journal articles
hal-01415936v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.
A. Bruel
,
B. Gerard
,
A. Piton
,
F. Tran Mau-Them
,
A. Sorlin
et al.
Journal articles
hal-03131626v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
A.‐l. Bruel
,
J. Thevenon
,
F. Huet
,
N. Jean‐marcais
,
S. Odent
et al.
Other publications
hal-01737178v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions
C. Dubourg
,
Frédérique Bonnet-Brilhault
,
A. Toutain
,
C. Mignot
,
A. Jacquette
et al.
Journal articles
hal-01063973v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
M. Lefebvre
,
A. L. Bruel
,
E. Tisserant
,
N. Bourgon
,
Y. Duffourd
et al.
Journal articles
inserm-03231676v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
M.J. Nabais Sá
,
P.J. Jensik
,
S.R. Mcgee
,
M.J. Parker
,
N. Lahiri
et al.
Journal articles
hal-02132596v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations
F. Riant
,
S. Odent
,
M. Cecillon
,
L. Pasquier
,
C. De Baracé
et al.
Journal articles
istex
hal-01064875v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations
A. Vitobello
,
F. Tran Mau-Them
,
A. L. Bruel
,
Y. Duffourd
,
E. Tisserant
et al.
Conference papers
hal-03131511v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Suivi gynécologique des patientes atteintes d’un spina bifida
D. Body-Bechou
,
A. -S. Cabaret-Dufour
,
L. Siproudhis
,
I. Berkelmans
,
A. Manunta
et al.
Journal articles
hal-01169795v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility
Sylvie Jaillard
,
R. Sreenivasan
,
M. Beaumont
,
G. Robevska
,
C. Dubourg
et al.
Journal articles
hal-02399813v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis
S. Jaillard
,
A. Bashamboo
,
L. Pasquier
,
M. A. Belaud-Rotureau
,
Ken Mcelreavey
et al.
Journal articles
hal-01116587v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Fetal phenotypes in otopalatodigital spectrum disorders
S. Naudion
,
S. Moutton
,
I. Coupry
,
G. Sole
,
J. Deforges
et al.
Journal articles
istex
hal-01214017v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|