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A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2

Human molecular genetics, 2004-01, Vol.13 (1), p.103-115

2004

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GWA studies: rewriting the story of IBD

Trends in genetics, 2009-03, Vol.25 (3), p.137-146

2009

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome : genomic organization and deletion endpoint analysis

Human molecular genetics, 2000-03, Vol.9 (4), p.489-501

2000

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Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)

Human molecular genetics, 2000-07, Vol.9 (11), p.1665-1670

2000

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t(11;22)(q23;q11.2) in Acute Myeloid Leukemia of Infant Twins Fuses MLL with hCDCrel, a Cell Division Cycle Gene in the Genomic Region of Deletion in DiGeorge and Velocardiofacial Syndromes

Proceedings of the National Academy of Sciences - PNAS, 1998-05, Vol.95 (11), p.6413-6418

1998

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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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Narrowing the critical region for a rhabdoid tumor locus in 22q11

Genes chromosomes & cancer, 1996-06, Vol.16 (2), p.94-105

1996

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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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Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region

Gene, 1997-10, Vol.198 (1), p.379-386

1997

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Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

Journal of medical genetics, 2001-12, Vol.38 (12), p.e45-45

2001

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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 genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11

American journal of human genetics, 1992-05, Vol.50 (5), p.924-933

1992

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Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

Genomics (San Diego, Calif.), 1997-08, Vol.43 (3), p.267-277

1997

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Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22)

American journal of human genetics, 2000-09, Vol.67 (3), p.763-768

2000

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Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families

American journal of human genetics, 1999-12, Vol.65 (6), p.1595-1607

1999

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Interchromosomal Duplications of the Adrenoleukodystrophy Locus: A Phenomenon of Pericentromeric Plasticity

Human molecular genetics, 1997-07, Vol.6 (7), p.991-1002

1997

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Isolation and Characterization of a Gene from the DiGeorge Chromosomal Region Homologous to the MouseTbx1Gene

Genomics (San Diego, Calif.), 1997-08, Vol.43 (3), p.267-277

1997

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A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11

Human molecular genetics, 1996-06, Vol.5 (6), p.789-800

1996

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Identification of a Mutation in a GATA Binding Site of the Platelet Glycoprotein Ibβ Promoter Resulting in the Bernard-Soulier Syndrome

The Journal of biological chemistry, 1996-09, Vol.271 (36), p.22076-22080

1996

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The human "peripheral-type" benzodiazepine receptor: regional mapping of the gene and characterization of the receptor expressed from cDNA

DNA and cell biology, 1992-07, Vol.11 (6), p.471

1992

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Progress in the Autosomal Segmental Aneusomy Syndromes (SASs): Single or Multi-Locus Disorders?

Human molecular genetics, 1997-01, Vol.6 (10), p.1657-1665

1997

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Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2

Human molecular genetics, 1995-04, Vol.4 (4), p.763-766

1995

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Structural analysis of the human pro-apoptotic gene Bik: Chromosomal localization, genomic organization and localization of promoter sequences

Gene, 2000-08, Vol.254 (1), p.157-162

2000

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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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Genomic structure, chromosomal localization, start of transcription, and tissue expression of the human p40-phox, a new component of the nicotinamide adenine dinucleotide phosphate-oxidase complex

Blood, 1996-10, Vol.88 (7), p.2714-2721

1996

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A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2

GWA studies: rewriting the story of IBD

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome : genomic organization and deletion endpoint analysis

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)

t(11;22)(q23;q11.2) in Acute Myeloid Leukemia of Infant Twins Fuses MLL with hCDCrel, a Cell Division Cycle Gene in the Genomic Region of Deletion in DiGeorge and Velocardiofacial Syndromes

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

Narrowing the critical region for a rhabdoid tumor locus in 22q11

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

Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

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

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22)

Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families

Interchromosomal Duplications of the Adrenoleukodystrophy Locus: A Phenomenon of Pericentromeric Plasticity

Isolation and Characterization of a Gene from the DiGeorge Chromosomal Region Homologous to the MouseTbx1Gene

A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11

Identification of a Mutation in a GATA Binding Site of the Platelet Glycoprotein Ibβ Promoter Resulting in the Bernard-Soulier Syndrome

The human "peripheral-type" benzodiazepine receptor: regional mapping of the gene and characterization of the receptor expressed from cDNA

Progress in the Autosomal Segmental Aneusomy Syndromes (SASs): Single or Multi-Locus Disorders?

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2

Structural analysis of the human pro-apoptotic gene Bik: Chromosomal localization, genomic organization and localization of promoter sequences

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

Genomic structure, chromosomal localization, start of transcription, and tissue expression of the human p40-phox, a new component of the nicotinamide adenine dinucleotide phosphate-oxidase complex

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