4.1 Article

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

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Association of the PIK4CA Schizophrenia-Susceptibility Gene in Adults With the 22q11.2 Deletion Syndrome

Jacob A. S. Vorstman et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2009)

Article Genetics & Heredity

The fine-scale and complex architecture of human copy-number variation

George H. Perry et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

22q11.2 distal deletion: A recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

Shay Ben-Shachar et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

Concurrent microdeletion and duplication of 22q11.2

E. Blennow et al.

CLINICAL GENETICS (2008)

Article Genetics & Heredity

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

Sintia Iole Nogueira et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)

Article Genetics & Heredity

Clinical variability of the 22q11.2 duplication syndrome

Christian Wentzel et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2008)

Article Biochemistry & Molecular Biology

Genome-based prediction of common diseases: advances and prospects

A. Cecile J. W. Janssens et al.

HUMAN MOLECULAR GENETICS (2008)

Article Genetics & Heredity

Detailed analysis of 22q11.2 with a high density MLPA probe set

G. R. Jalali et al.

HUMAN MUTATION (2008)

Article Medicine, General & Internal

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Heather C. Mefford et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Biochemistry & Molecular Biology

An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia

B. J. Jungerius et al.

MOLECULAR PSYCHIATRY (2008)

Article Genetics & Heredity

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene

Fady M. Mikhail et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Letter Genetics & Heredity

An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior

Carla S. D'Angelo et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Genetics & Heredity

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

Melissa A. Dempsey et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Biochemistry & Molecular Biology

Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

Tamim H. Shaikh et al.

GENOME RESEARCH (2007)

Article Genetics & Heredity

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

Christiane Zweier et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Genetics & Heredity

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

Rosanna Weksberg et al.

HUMAN GENETICS (2007)

Article Biochemistry & Molecular Biology

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation

Laura Torres-Juan et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2007)

Article Genetics & Heredity

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome

Anna Brunet et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Letter Genetics & Heredity

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

Ceine de la Rochebrochard et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Article Multidisciplinary Sciences

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays

AE Urban et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Genetics & Heredity

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2

A Rauch et al.

JOURNAL OF MEDICAL GENETICS (2005)

Article Genetics & Heredity

22q11.2 Duplication syndrome:: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes

MF Portnoï et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Genetics & Heredity

Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome

L Fernández et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Genetics & Heredity

Microduplication and triplication of 22q11.2: A highly variable syndrome

TM Yobb et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2005)

Article Genetics & Heredity

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2

MC Digilio et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Biochemistry & Molecular Biology

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

SC Saitta et al.

HUMAN MOLECULAR GENETICS (2004)

Article Genetics & Heredity

An association study of PCOAP polymorphisms and schizophrenia

HK Sandhu et al.

PSYCHIATRIC GENETICS (2004)

Article Genetics & Heredity

Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients

RE Ensenauer et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Medicine, General & Internal

Role of TBX1 in human del22q11.2 syndrome

H Yagi et al.

LANCET (2003)

Article Genetics & Heredity

Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia

A De Luca et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2003)

Article Genetics & Heredity

A novel atypical 22q11.2 distal deletion in father and son

S. Garcia-Minaur et al.

JOURNAL OF MEDICAL GENETICS (2002)

Review Genetics & Heredity

Chromosomal microdeletions:: Dissecting del22q11 syndrome

EA Lindsay

NATURE REVIEWS GENETICS (2001)

Correction Biochemistry & Molecular Biology

Polymorphism in SNAP29 gene promoter region associated with schizophrenia (vol 6, pg 193, 2001)

T Saito et al.

MOLECULAR PSYCHIATRY (2001)

Article Cardiac & Cardiovascular Systems

Molecular characterization of tetralogy of Fallot within DiGeorge critical region of the chromosome 22

JH Lu et al.

PEDIATRIC CARDIOLOGY (2001)