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

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

(2012) Orazio Palumbo et al.   Molecular Cytogenetics

The new Ghent criteria for Marfan syndrome: what do they change?

(2011) L Faivre et al.   CLINICAL GENETICS

De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia

(2011) Chiara Magri et al.   European Journal of Medical Genetics

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

(2011) Sébastien Jacquemont et al.   NATURE

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature

(2010) Sophia Kitsiou-Tzeli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome

(2010) A.L. Mosca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly

(2010) Sjzhong Zhang et al.   CLINICAL GENETICS

Delineation of 15q13.3 microdeletions

(2010) A Masurel-Paulet et al.   CLINICAL GENETICS

19p13.3 Aberrations Are Associated with Dysmorphic Features and Deviant Psychomotor Development

(2010) L. Siggberg et al.   CYTOGENETIC AND GENOME RESEARCH

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

(2010) Laurence Faivre et al.   European Journal of Medical Genetics

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

(2010) Christèle Dubourg et al.   European Journal of Medical Genetics

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

(2009) L. Faivre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

(2009) Mélissa Yana Frédéric et al.   HUMAN MUTATION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Syndrome de Marfan : critères diagnostiques et apport de la biologie moléculaire

(2008) C. Stheneur et al.   ARCHIVES DE PEDIATRIE

Compound-heterozygous Marfan syndrome

(2008) F.S. Van Dijk et al.   European Journal of Medical Genetics

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

(2008) Chantal Stheneur et al.   HUMAN MUTATION

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations

(2008) L. Faivre et al.   PEDIATRICS

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

(2008) Blake C Ballif et al.   Molecular Cytogenetics

Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2

(2007) Maurice A.M. van Steensel et al.   EXPERIMENTAL DERMATOLOGY

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

(2007) Melissa Yana Frederic et al.   HUMAN MUTATION