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Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Clinical genetics, 2013-01, Vol.83 (1), p.53-65

2013

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Implementation of Staging Guidelines in Early Esophageal Cancer: A Study of the Society of Thoracic Surgeons General Thoracic Surgery Database

Annals of surgery, 2023-10, Vol.278 (4), p.e754-e759

2023

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CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

Clinical genetics, 2012-03, Vol.81 (3), p.234-239

2012

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Antisense RNA to the Type I Insulin-Like Growth Factor Receptor Suppresses Tumor Growth and Prevents Invasion by Rat Prostate Cancer Cells in vivo

Proceedings of the National Academy of Sciences - PNAS, 1996-07, Vol.93 (14), p.7263-7268

1996

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Normal bronchial epithelial cells constitutively produce the anti-inflammatory cytokine interleukin-10, which is downregulated in cystic fibrosis

American journal of respiratory cell and molecular biology, 1995-09, Vol.13 (3), p.257-261

1995

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A Family with an Inverted Tandem Duplication 5q22.1q23.2

Cytogenetic and genome research, 2013-01, Vol.139 (1), p.65-70

2013

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PHF5A represents a bridge protein between splicing proteins and ATP-dependent helicases and is differentially expressed during mouse spermatogenesis

Cytogenetic and genome research, 2008-01, Vol.121 (3-4), p.232-244

2008

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Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8

Cytogenetic and genome research, 2014-01, Vol.142 (1), p.1-6

2014

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Proven germline mosaicism in a father of two children with CHARGE syndrome

Clinical genetics, 2009-05, Vol.75 (5), p.473-479

2009

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Defective thrombus formation in mice lacking coagulation factor XII

The Journal of experimental medicine, 2005-07, Vol.202 (2), p.271-281

2005

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An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient

Clinical genetics, 2010-06, Vol.77 (6), p.593-597

2010

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Leupaxin acts as a mediator in prostate carcinoma progression through deregulation of p120catenin expression

Oncogene, 2009-11, Vol.28 (45), p.3971-3982

2009

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Mast Cells Increase Vascular Permeability by Heparin-Initiated Bradykinin Formation In Vivo

Immunity (Cambridge, Mass.), 2011-02, Vol.34 (2), p.258-268

2011

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Onconase, an anti-tumor ribonuclease suppresses intracellular oxidative stress

International journal of oncology, 2007-09, Vol.31 (3), p.663-669

2007

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The putative peroxisomal gene Pxt1 is exclusively expressed in the testis

Cytogenetic and genome research, 2007-01, Vol.119 (1-2), p.74-82

2007

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Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis

The Journal of experimental medicine, 2006-03, Vol.203 (3), p.513-518

2006

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A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome

Clinical genetics, 2007-11, Vol.72 (5), p.454-459

2007

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Identification and characterization of a novel murine multigene family containing a PHD-finger-like motif

Biochemical and biophysical research communications, 2002-05, Vol.293 (2), p.816-826

2002

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Identification and characterization of NIF3L1 BP1, a novel cytoplasmic interaction partner of the NIF3L1 protein

Biochemical and biophysical research communications, 2003-09, Vol.309 (2), p.440-448

2003

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Cell cycle effects and control of gene expression by resveratrol in human breast carcinoma cell lines with different metastatic potentials

International journal of oncology, 1999-08, Vol.15 (2), p.245

1999

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Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q

Prenatal diagnosis, 2006-03, Vol.26 (3), p.286-290

2006

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Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome

Journal of medical genetics, 2003-05, Vol.40 (5), p.e62-62

2003

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Targeted Disruption of the Mouse Npal3 Gene Leads to Deficits in Behavior, Increased IgE Levels, and Impaired Lung Function

Cytogenetic and genome research, 2009-01, Vol.125 (3), p.186-200

2009

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Immortalization of Murine Male Germ Cells at a Discrete Stage of Differentiation by a Novel Directed Promoter-Based Selection Strategy

Biology of reproduction, 2000-11, Vol.63 (5), p.1555-1561

2000

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Nogo-A Inhibits Neurite Outgrowth and Cell Spreading with Three Discrete Regions

The Journal of neuroscience, 2003-07, Vol.23 (13), p.5393-5406

2003

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Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

Implementation of Staging Guidelines in Early Esophageal Cancer: A Study of the Society of Thoracic Surgeons General Thoracic Surgery Database

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

Antisense RNA to the Type I Insulin-Like Growth Factor Receptor Suppresses Tumor Growth and Prevents Invasion by Rat Prostate Cancer Cells in vivo

Normal bronchial epithelial cells constitutively produce the anti-inflammatory cytokine interleukin-10, which is downregulated in cystic fibrosis

A Family with an Inverted Tandem Duplication 5q22.1q23.2

PHF5A represents a bridge protein between splicing proteins and ATP-dependent helicases and is differentially expressed during mouse spermatogenesis

Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8

Proven germline mosaicism in a father of two children with CHARGE syndrome

Defective thrombus formation in mice lacking coagulation factor XII

An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient

Leupaxin acts as a mediator in prostate carcinoma progression through deregulation of p120catenin expression

Mast Cells Increase Vascular Permeability by Heparin-Initiated Bradykinin Formation In Vivo

Onconase, an anti-tumor ribonuclease suppresses intracellular oxidative stress

The putative peroxisomal gene Pxt1 is exclusively expressed in the testis

Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis

A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome

Identification and characterization of a novel murine multigene family containing a PHD-finger-like motif

Identification and characterization of NIF3L1 BP1, a novel cytoplasmic interaction partner of the NIF3L1 protein

Cell cycle effects and control of gene expression by resveratrol in human breast carcinoma cell lines with different metastatic potentials

Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome

Targeted Disruption of the Mouse Npal3 Gene Leads to Deficits in Behavior, Increased IgE Levels, and Impaired Lung Function

Immortalization of Murine Male Germ Cells at a Discrete Stage of Differentiation by a Novel Directed Promoter-Based Selection Strategy

Nogo-A Inhibits Neurite Outgrowth and Cell Spreading with Three Discrete Regions

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