Phenotypic variability of distal 22q11.2 copy number abnormalities

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

(2010) Caroline Rooryck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2

(2009) M. Cristina Digilio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

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

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

(2009) Lucie Lafay-Cousin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

(2009) Luis Fernández et al.   BMC Medical Genetics

Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery

(2009) Yali Hu et al.   CARDIOLOGY IN THE YOUNG

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

(2009) Vera Uliana et al.   CLINICAL DYSMORPHOLOGY

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

(2009) J. Coppinger et al.   HUMAN MOLECULAR GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome

(2009) D. W. Meechan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report

(2009) Caroline Ogilvie et al.   Molecular Cytogenetics

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families

(2008) Winnie Courtens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Distal 22q11.2 microduplication encompassing theBCRgene

(2008) Maria Descartes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?

(2008) J. Xu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype

(2008) Olaug K. Rødningen et al.   European Journal of Medical Genetics

A 2.3Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’

(2008) Moira Blyth et al.   European Journal of Medical Genetics

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

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

(2008) Andrew J Sharp et al.   NATURE GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

(2008) J. Newbern et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA