A. Dieux-Coeslier

发表

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

R. Salomon, F. Silbermann, C. Antignac, 2016, PLoS genetics.

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome

K. R. Jun, J. Rosenfeld, J. Schneider, 2016, Cell Death and Differentiation.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient

I. Bièche, E. Pasmant, M. Vidaud, 2008, European Journal of Human Genetics.

Running title: A role for ASPP2 in human congenital disorder

Zubaidah, J. Rosenfeld, Xin Lu, 2018 .

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

S. Twigg, A. Wilkie, H. Stewart, 2021, Human mutation.

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

P. Fergelot, C. Marchal, C. Rooryck, 2012, European journal of medical genetics.

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

C. Marchal, A. Toutain, N. Philip, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

M. Holder-Espinasse, F. Escande, N. Porchet, 2004, Journal of Medical Genetics.

Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy

D. Ville, G. Lesca, A. Labalme, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

A. Munnich, R. Salomon, B. Estournet, 2013, Journal of Medical Genetics.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

[Prenatal diagnosis of hyperechogenic kidneys: A study of 17 cases].

P. Vaast, L. Devisme, A. Dieux-Coeslier, 2010, Journal de gynecologie, obstetrique et biologie de la reproduction.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

S. Bouquillon, C. Roche-Lestienne, A. Dieux-Coeslier, 2019, neurogenetics.

Crane-Heise syndrome: two further case reports.

A. Toutain, J. Andrieux, F. Petit, 2011, European journal of medical genetics.

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

M. Sanson, J. Soulier, I. Bièche, 2010, Human mutation.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

K. Devriendt, G. Mortier, Y. Gillerot, 2010, Molecular Syndromology.

What can we learn from old microdeletion syndromes using array‐CGH screening?

L. Faivre, P. Jonveaux, C. Thauvin-Robinet, 2012, Clinical genetics.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.

Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review

C. Gondry-Jouet, J. Gondry, C. Klein, 2017, American journal of medical genetics. Part A.

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

D. Skuse, A. McQuillin, N. Bass, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

L. Pasquier, L. Faivre, S. Blesson, 2016, Clinical genetics.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.

M. Copin, F. Glowacki, A. Seidowsky, 2013, Clinical nephrology.

Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

F. Escande, F. Petit, M. Figeac, 2015, European Journal of Human Genetics.

Myhre syndrome: new reports, review, and differential diagnosis

A. Verloes, J. Bourguignon, V. Cormier-Daire, 2003, Journal of medical genetics.

[Prenatal helical CT diagnosis of severe fibular hemimelia].

S. Petit, N. Boutry, J. Bigot, 2011, Journal de radiologie.

Imaging features of lower limb malformations above the foot.

N. Boutry, A. Bergère, A. Dieux-Coeslier, 2015, Diagnostic and interventional imaging.

Association of Adams–Oliver syndrome and hepatoportal sclerosis: An additional case

A. Dieux-Coeslier, F. Gottrand, G. Pouessel, 2006, American journal of medical genetics. Part A.

High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis

A. Verloes, V. Cormier-Daire, J. Carel, 2003, Journal of medical genetics.

Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

C. Hall, M. le Merrer, C. Fourier, 2004, Clinical dysmorphology.

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome

R. Hennekam, A. Shaw, E. Seemanová, 2014, Human mutation.