M. Delrue

发表

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

P. Jouk, L. Faivre, C. Dauphin, 2011, European journal of medical genetics.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

C. Rooryck, G. Lefort, P. Jonveaux, 2013, European Journal of Human Genetics.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

A. Afenjar, N. Philip, A. Verloes, 2010, Journal of Medical Genetics.

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

T. Mazza, A. Pizzuti, M. Tartaglia, 2021, Genetics in Medicine.

A Point Mutation in the RNA Recognition Motif of CSTF2 Associated with Intellectual Disability in Humans Causes Defects in 3′ End Processing

P. Billuart, V. Kalscheuer, T. Bienvenu, 2020, bioRxiv.

A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome

D. Cappellen, J. Toutain, C. Rooryck, 2012, American journal of medical genetics. Part A.

New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity

L. Bouneau, S. Julia, J. Toutain, 2014, American journal of medical genetics. Part A.

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

D. Lacombe, C. Yardin, V. Guigonis, 2014, Archives of Disease in Childhood.

[Clinical signs of Marfan syndrome in children under 10 years of age].

D. Lacombe, M. Delrue, F. Laffargue, 2013, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

A. Toutain, Olivier Tassy, D. Lacombe, 2012, European Journal of Human Genetics.

Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome

M. Bouvard, D. Lacombe, C. Galéra, 2009, Journal of autism and developmental disorders.

Behavioral and temperamental features of children with Costello syndrome

M. Bouvard, N. Philip, D. Lacombe, 2006, American journal of medical genetics. Part A.

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

W. Reardon, R. Hennekam, H. Cavé, 2005, Journal of Medical Genetics.

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

C. Cruaud, D. Lacombe, L. Taine, 2002, Journal of medical genetics.

The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

J. Allanson, K. Gripp, D. Lacombe, 2008, American journal of medical genetics. Part A.

Brachydactyly type A1 with short humerus and associated skeletal features

S. Mundlos, A. Toutain, C. Rooryck, 2010, American journal of medical genetics. Part A.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

C. Fallet-Bianco, E. Lemyre, D. Chitayat, 2017, Genetics in Medicine.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition.

B. Gelb, G. Andelfinger, M. Zenker, 2019, Journal of the American College of Cardiology.

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

P. Fergelot, J. Toutain, C. Rooryck, 2013, Molecular genetics and metabolism.

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

F. Escande, J. Amiel, M. Delrue, 2014, Clinical genetics.

New insights into genotype–phenotype correlation for GLI3 mutations

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

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

G. Jondeau, J. Thevenon, L. Faivre, 2012, Prenatal diagnosis.

Syndrome de Costello : aspects cliniques et risque tumoral

D. Lacombe, B. Arveiler, M. Delrue, 2002 .

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

W. Chung, C. Cytrynbaum, N. Brunetti‐Pierri, 2013, Human mutation.

Effects of eight neuropsychiatric copy number variants on human brain structure

Allison G. Dempsey, M. Owen, R. Buckner, 2021, Translational Psychiatry.

Fat chance: genetic syndromes with obesity

J. Michaud, M. Delrue, JL Michaud, 2004, Clinical genetics.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

C. Bult, P. Donahoe, P. Giampietro, 2021, medRxiv.

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

S. Colan, K. Gripp, A. Lin, 2011, American journal of medical genetics. Part A.

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

E. Lemyre, R. Møller, H. Hjalgrim, 2019, Journal of Medical Genetics.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

C. Rooryck, C. Goizet, B. Arveiler, 2010, American journal of medical genetics. Part A.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Costello syndrome and neurological abnormalities

D. Lacombe, B. Arveiler, J. Chateil, 2003, American journal of medical genetics. Part A.

Clinical Report Costello Syndrome and Neurological Abnormalities

D. Lacombe, B. Arveiler, M. Delrue, 2003 .

Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

J. Rosenfeld, E. Roeder, F. Xia, 2016, Human mutation.

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.

Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

P. Ravaud, C. Béroud, G. Jondeau, 2009, Circulation.

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

J. Melki, S. Julia, P. Jouk, 2018, European Journal of Human Genetics.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

A. Mégarbané, L. Mourey, A. Verloes, 2015, Orphanet Journal of Rare Diseases.

Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly

E. Lemyre, F. Audibert, I. Boucoiran, 2019, Pediatric Cardiology.

Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients

D. Lacombe, D. Simon, B. Arveiler, 2007, European Journal of Human Genetics.

A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3′ end processing is associated with intellectual disability in humans

P. Billuart, V. Kalscheuer, T. Bienvenu, 2020, Nucleic acids research.

Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome.

F. Tubach, G. Jondeau, L. Faivre, 2010, Archives of cardiovascular diseases.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

A. Toutain, N. Philip, R. Salomon, 2013, The Journal of pediatrics.

Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review

P. Fergelot, D. Lacombe, F. Boralevi, 2013, Pediatric dermatology.

Finger creases lend a hand in Kabuki syndrome.

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2013, European journal of medical genetics.

Testing and improving experimental parameters for the use of low molecular weight targets in array‐CGH experiments

Isabelle Guisle, D. Lacombe, D. Simon, 2006, Human mutation.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

Prenatal pleural effusions and chylothorax: An unusual presentation for CM‐AVM syndrome due to RASA1

J. Soucy, M. Delrue, G. D'Amours, 2020, American journal of medical genetics. Part A.

Phenotype and natural history in Marshall–Smith syndrome

Martin Zenker, Silvija Pušeljić, Geert Mortier, 2010, American journal of medical genetics. Part A.

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

A. Munnich, N. Katsanis, P. Ernfors, 2015, American journal of human genetics.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

Association of ectrodactyly and distal phocomelia.

D. Lacombe, M. Delrue, 2002, Genetic Counseling.

Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis?

A. Toutain, C. Baumann, C. Dupont, 2018, Clinical genetics.

Fat chance: genetic syndromes with obesity

M. Delrue, D. Ma, Michaud Jl, 2004, Clinical genetics.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

C. Fallet-Bianco, E. Lemyre, D. Chitayat, 2018, Genetics in Medicine.

A case of familial transmission of the newly described DNMT3A‐Overgrowth Syndrome

J. Gauthier, J. Soucy, M. Delrue, 2017, American journal of medical genetics. Part A.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

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.

Phenotype and natural history in Marshall–Smith syndrome

R. Hennekam, G. Mortier, S. Knight, 2010, American journal of medical genetics. Part A.

Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy.

P. Striano, G. Andelfinger, S. Perreault, 2023, Pediatric neurology.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

C. Cruaud, D. Lacombe, L. Taine, 2002, Journal of medical genetics.

The Quebec Dental Anomalies Registry: Identifying genes for rare disorders

M. Schmittbuhl, Philippe M. Campeau, F. Moldovan, 2023, PNAS nexus.

Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome

S. Parent, Philippe M. Campeau, M. Delrue, 2019, American journal of medical genetics. Part A.