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The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors

Nucleic acids research, 1999-06, Vol.27 (11), p.2291

1999

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Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations

Journal of medical genetics, 2008-01, Vol.45 (1), p.15-21

2008

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Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

Journal of medical genetics, 2004-02, Vol.41 (2), p.137-144

2004

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Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease

Blood, 2000-11, Vol.96 (9), p.3118-3125

2000

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Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

American journal of human genetics, 2000-04, Vol.66 (4), p.1199-1210

2000

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The gene for a novel transmembrane protein containing epidermal growth factor and follistatin domains is frequently hypermethylated in human tumor cells

Cancer research (Chicago, Ill.), 2000-09, Vol.60 (17), p.4907-4912

2000

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SH2D1A and slam protein expression in human lymphocytes and derived cell lines

International journal of cancer, 2000-11, Vol.88 (3), p.439-447

2000

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SAP couples Fyn to SLAM immune receptors

Nature cell biology, 2003-02, Vol.5 (2), p.155-160

2003

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Molecular genetics of Usher syndrome

Cellular and molecular life sciences : CMLS, 1999-10, Vol.56 (3-4), p.258-267

1999

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Consistent Chromosome 3p Deletion and Loss of Heterozygosity in Renal Cell Carcinoma

Proceedings of the National Academy of Sciences - PNAS, 1988-03, Vol.85 (5), p.1571-1575

1988

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Fusion of ALK to the Ran-binding protein 2 (RANBP2) gene in inflammatory myofibroblastic tumor

Genes chromosomes & cancer, 2003-05, Vol.37 (1), p.98-105

2003

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Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members

Blood, 2002-01, Vol.99 (1), p.61-66

2002

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Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

American journal of human genetics, 1996-11, Vol.59 (5), p.1074-1083

1996

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Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis

The Journal of clinical investigation, 2006-01, Vol.116 (1), p.182-192

2006

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Hypertriglyceridemia-induced acute pancreatitis: A prospective, multicenter, international cohort analysis of 716 acute pancreatitis cases

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2020-11, Vol.20, p.S70-S70

2020

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Crystal Structures of the XLP Protein SAP Reveal a Class of SH2 Domains with Extended, Phosphotyrosine-Independent Sequence Recognition

Molecular cell, 1999-10, Vol.4 (4), p.555-561

1999

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Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip

Gene, 2003-04, Vol.309 (1), p.11-21

2003

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Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

Science (American Association for the Advancement of Science), 1998-06, Vol.280 (5370), p.1753-1757

1998

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Analysis of NotI linking clones isolated from human chromosome 3 specific libraries

Gene, 1999-11, Vol.239 (2), p.259-271

1999

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Gene mapping of Usher syndrome type IIa : localization of the gene to a 2.1-cM segment on chromosome 1q41

American journal of human genetics, 1995, Vol.56 (1), p.216-223

1995

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Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

Blood, 2005-04, Vol.105 (8), p.3066-3071

2005

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SAP increases FynT kinase activity and is required for phosphorylation of SLAM and Ly9

International immunology, 2004-05, Vol.16 (5), p.727-736

2004

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NotI linking/jumping clones of human chromosome 3: mapping of the TFRC, RAB7 and HAUSP genes to regions rearranged in leukemia and deleted in solid tumors

FEBS letters, 1997-12, Vol.419 (2), p.181-185

1997

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Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations

American journal of human genetics, 2002-09, Vol.71 (3), p.607-617

2002

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Characterization of SH2D1A Missense Mutations Identified in X-linked Lymphoproliferative Disease Patients

The Journal of biological chemistry, 2001-09, Vol.276 (39), p.36809-36816

2001

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The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors

Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease

Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

The gene for a novel transmembrane protein containing epidermal growth factor and follistatin domains is frequently hypermethylated in human tumor cells

SH2D1A and slam protein expression in human lymphocytes and derived cell lines

SAP couples Fyn to SLAM immune receptors

Molecular genetics of Usher syndrome

Consistent Chromosome 3p Deletion and Loss of Heterozygosity in Renal Cell Carcinoma

Fusion of ALK to the Ran-binding protein 2 (RANBP2) gene in inflammatory myofibroblastic tumor

Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients

Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis

Hypertriglyceridemia-induced acute pancreatitis: A prospective, multicenter, international cohort analysis of 716 acute pancreatitis cases

Crystal Structures of the XLP Protein SAP Reveal a Class of SH2 Domains with Extended, Phosphotyrosine-Independent Sequence Recognition

Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

Analysis of NotI linking clones isolated from human chromosome 3 specific libraries

Gene mapping of Usher syndrome type IIa : localization of the gene to a 2.1-cM segment on chromosome 1q41

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

SAP increases FynT kinase activity and is required for phosphorylation of SLAM and Ly9

NotI linking/jumping clones of human chromosome 3: mapping of the TFRC, RAB7 and HAUSP genes to regions rearranged in leukemia and deleted in solid tumors

Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations

Characterization of SH2D1A Missense Mutations Identified in X-linked Lymphoproliferative Disease Patients

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