22q11. 2 deletion syndrome
DM McDonald-McGinn, KE Sullivan, B Marino… - Nature reviews Disease …, 2015 - nature.com
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
Psychiatric disorders from childhood to adulthood in 22q11. 2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11. 2 Deletion …
M Schneider, M Debbané, AS Bassett… - American Journal of …, 2014 - Am Psychiatric Assoc
Objective Chromosome 22q11. 2 deletion syndrome is a neurogenetic disorder associated
with high rates of schizophrenia and other psychiatric conditions. The authors report what is …
with high rates of schizophrenia and other psychiatric conditions. The authors report what is …
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
We present a database of copy number variations (CNVs) detected in 2026 disease-free
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort …
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort …
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
S Kondo, BC Schutte, RJ Richardson, BC Bjork… - Nature …, 2002 - nature.com
Abstract Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors
that share a highly conserved helix–turn–helix DNA-binding domain and a less conserved …
that share a highly conserved helix–turn–helix DNA-binding domain and a less conserved …
Microduplications of 16p11. 2 are associated with schizophrenia
SE McCarthy, V Makarov, G Kirov, AM Addington… - Nature …, 2009 - nature.com
Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome
16p11. 2 have been implicated in childhood-onset developmental disorders,,. We report the …
16p11. 2 have been implicated in childhood-onset developmental disorders,,. We report the …
[HTML][HTML] A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
MJ Lindhurst, JC Sapp, JK Teer… - … England Journal of …, 2011 - Mass Medical Soc
Background The Proteus syndrome is characterized by the overgrowth of skin, connective
tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by …
tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by …
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
We report the identification of a recurrent, 520-kb 16p12. 1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …
Chromosome 22-specific low copy repeats and the 22q11. 2 deletion syndrome: genomic organization and deletion endpoint analysis
TH Shaikh, H Kurahashi, SC Saitta… - Human molecular …, 2000 - academic.oup.com
The 22q11. 2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes
(DGS/VCFS), is the most common microdeletion syndrome. The majority of deleted patients …
(DGS/VCFS), is the most common microdeletion syndrome. The majority of deleted patients …
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
DJ Marsh, JB Kum, KL Lunetta… - Human molecular …, 1999 - academic.oup.com
Germline mutations in the tumour suppressor gene PTEN have been implicated in two
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and …
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and …
Frequency of 22q11 deletions in patients with conotruncal defects
E Goldmuntz, BJ Clark, LE Mitchell, AF Jawad… - Journal of the American …, 1998 - jacc.org
Objectives. This study was designed to determine the frequency of 22q11 deletions in a
large, prospectively ascertained sample of patients with conotruncal defects and to evaluate …
large, prospectively ascertained sample of patients with conotruncal defects and to evaluate …