User profiles for E.H. Zackai
Zackai EHProfessor of Pediatrics, University of Pennsylvania Verified email at chop.edu Cited by 54118 |
22q11. 2 deletion syndrome
…, N Philip, A Swillen, JAS Vorstman, EH Zackai… - Nature reviews Disease …, 2015 - nature.com
22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal microdeletion
disorder, estimated to result mainly from de novo non-homologous meiotic recombination …
disorder, estimated to result mainly from de novo non-homologous meiotic recombination …
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
…, A Sander, DM McDonald-McGinn, EH Zackai… - Nature …, 2002 - nature.com
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 protein-…
a highly conserved helix–turn–helix DNA-binding domain and a less conserved protein-…
[HTML][HTML] A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
…, J Upton, S Wientroub, EH Zackai… - … 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 …
Microduplications of 16p11. 2 are associated with schizophrenia
Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome
16p11.2 have been implicated in childhood-onset developmental disorders 1 , 2 , 3 . We …
16p11.2 have been implicated in childhood-onset developmental disorders 1 , 2 , 3 . We …
Psychiatric disorders from childhood to adulthood in 22q11. 2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11. 2 Deletion …
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 to …
with high rates of schizophrenia and other psychiatric conditions. The authors report what is to …
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
…, DM McDonald-McGinn, EH Zackai… - Journal of medical …, 1993 - jmg.bmj.com
Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS)
and velocardiofacial syndrome (VCFS). In the present study, we analysed samples from …
and velocardiofacial syndrome (VCFS). In the present study, we analysed samples from …
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
…, R Trembath, RM Winter, EH Zackai… - 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 Bannayan-…
hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-…
Frequency of 22q11 deletions in patients with conotruncal defects
…, P Chien, J Feuer, EH Zackai… - 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 the …
prospectively ascertained sample of patients with conotruncal defects and to evaluate the …
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
…, A Biser, DM McDonald-McGinn, EH Zackai… - Nature …, 2010 - nature.com
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
…, DM McDonald-McGinn, EH Zackai… - 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 …
is the most common microdeletion syndrome. The majority of deleted patients …