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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

Journal of medical genetics, 1993-10, Vol.30 (10), p.813-817

1993

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Member Census Shows LUGPA Practices Exhibit High Level of Innovation, Sophistication, and Growth

Reviews in urology, 2018, Vol.20 (2), p.94-97

2018

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Disruption of the Clathrin Heavy Chain-Like Gene (CLTCL) Associated with Features of DGS/VCFS: A Balanced (21;22)(p12;q11) Translocation

Human molecular genetics, 1997-03, Vol.6 (3), p.357-367

1997

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Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype

American journal of human genetics, 1998-02, Vol.62 (2), p.495-498

1998

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Localization of the Human Gene for Macrophage Migration Inhibitory Factor (MIF) to Chromosome 22q11.2

Genomics (San Diego, Calif.), 1997-01, Vol.39 (2), p.235-236

1997

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Molecular characterization of the marker chromosome associated with cat eye syndrome

American journal of human genetics, 1994-07, Vol.55 (1), p.134-142

1994

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Comparative mapping of the constitutional and tumor-associated 11;22 translocations

American journal of human genetics, 1989-07, Vol.45 (1), p.128-139

1989

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Molecular Cloning and Characterization of the Bovine and Human Tuftelin Genes

Connective tissue research, 1998, Vol.39 (1-3), p.13-24

1998

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Type I Oculocutaneous Albinism Associated with a Full-Length Deletion of the Tyrosinase Gene

Journal of investigative dermatology, 1996-05, Vol.106 (5), p.1137-1140

1996

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Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization

Prenatal diagnosis, 1994-11, Vol.14 (11), p.1029-1034

1994

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Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

Nature genetics, 1995-07, Vol.10 (3), p.269-278

1995

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The DiGeorge syndrome minimal critical region contains a Goosecoid-like (GSCL) homeobox gene that is expressed early in human development

American journal of human genetics, 1997-05, Vol.60 (5), p.1194-1201

1997

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Conserved gene structure and genomic linkage for D-dopachrome tautomerase (DDT) and MIF

Mammalian genome, 1998-09, Vol.9 (9), p.753-757

1998

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Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma

American journal of medical genetics, 1992-04, Vol.42 (6), p.771-776

1992

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Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes

Progress in clinical and biological research, 1993, Vol.384, p.207

1993

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Synthesizing and Applying Molecular Targeted Imaging Results in Patients With Prostate Cancer (RADAR VII)

JU Open Plus, 2023-03, Vol.1 (3)

2023

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Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development

Mammalian genome, 1999-03, Vol.10 (3), p.322-326

1999

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A Clinician's Guide to Targeted Precision Imaging in Patients With Prostate Cancer (RADAR VI)

JU Open Plus, 2023-01, Vol.1 (1)

2023

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Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22

Genomics (San Diego, Calif.), 1991-08, Vol.10 (4), p.996-1002

1991

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Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome

American journal of medical genetics, 1989-04, Vol.32 (4), p.461-467

1989

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Classical Noonan syndrome is not associated with deletions of 22q11

American journal of medical genetics, 1995-03, Vol.56 (1), p.94-96

1995

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Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13

Genomics (San Diego, Calif.), 1991-12, Vol.11 (4), p.941-947

1991

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Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma

Genes chromosomes & cancer, 1991-03, Vol.3 (2), p.153-161

1991

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Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34 by in situ hybridization

American journal of human genetics, 1986-01, Vol.38 (1), p.38-44

1986

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Dynamic Fracture in Disordered Media

MRS bulletin, 2000-05, Vol.25 (5), p.46-50

2000

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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

Member Census Shows LUGPA Practices Exhibit High Level of Innovation, Sophistication, and Growth

Disruption of the Clathrin Heavy Chain-Like Gene (CLTCL) Associated with Features of DGS/VCFS: A Balanced (21;22)(p12;q11) Translocation

Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype

Localization of the Human Gene for Macrophage Migration Inhibitory Factor (MIF) to Chromosome 22q11.2

Molecular characterization of the marker chromosome associated with cat eye syndrome

Comparative mapping of the constitutional and tumor-associated 11;22 translocations

Molecular Cloning and Characterization of the Bovine and Human Tuftelin Genes

Type I Oculocutaneous Albinism Associated with a Full-Length Deletion of the Tyrosinase Gene

Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

The DiGeorge syndrome minimal critical region contains a Goosecoid-like (GSCL) homeobox gene that is expressed early in human development

Conserved gene structure and genomic linkage for D-dopachrome tautomerase (DDT) and MIF

Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma

Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes

Synthesizing and Applying Molecular Targeted Imaging Results in Patients With Prostate Cancer (RADAR VII)

Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development

A Clinician's Guide to Targeted Precision Imaging in Patients With Prostate Cancer (RADAR VI)

Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome

Classical Noonan syndrome is not associated with deletions of 22q11

Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13

Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma

Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34 by in situ hybridization

Dynamic Fracture in Disordered Media

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