The phenotype of recurrent 10q22q23 deletions and duplications

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2

(2010) S Alliman et al.   CLINICAL GENETICS

Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review*

(2010) VICTORIA LEGGETT et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2010) R. G. Walters et al.   NATURE

Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia

(2009) Pei-Lung Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

(2009) FH Menko et al.   CLINICAL GENETICS

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

(2009) L. M. Dibbens et al.   HUMAN MOLECULAR GENETICS

Genetic Variants Associated With Cardiac Structure and Function

(2009) Ramachandran S. Vasan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

(2009) S Ben-Shachar et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL 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

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

A MicroRNA gene is hosted in an intron of a schizophrenia-susceptibility gene

(2009) Yanglong Zhu et al.   SCHIZOPHRENIA RESEARCH

Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter

(2009) Jens Treutlein et al.   SCHIZOPHRENIA RESEARCH

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

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

A 15q13.3 microdeletion segregating with autism

(2008) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

The Role of NRG3 in Mammary Development

(2008) Beatrice A. Howard   JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA

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

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

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

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

(2008) Ignatia B. Van den Veyver et al.   PRENATAL DIAGNOSIS

Fine mapping of a de novo interstitial 10q22–q23 duplication in a patient with congenital heart disease and microcephaly

(2007) F. Erdogan et al.   European Journal of Medical Genetics