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Mutations in NPC1 Highlight a Conserved NPC1-Specific Cysteine-Rich Domain

American journal of human genetics, 1999-11, Vol.65 (5), p.1252-1260

1999

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Familial essential thrombocythemia with spontaneous megakaryocyte colony formation and acquired JAK2 mutations

Leukemia, 2008-08, Vol.22 (8), p.1551-1556

2008

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Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type C

American journal of human genetics, 1997-07, Vol.61 (1), p.139-142

1997

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The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097→T transversion in NPC1

American journal of human genetics, 1998-07, Vol.63 (1), p.52-54

1998

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Qualitative assessment of the emotional and behavioural responses of haemophilia A carriers to negative experiences in their medical care

Haemophilia : the official journal of the World Federation of Hemophilia, 2011-03, Vol.17 (2), p.237-245

2011

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Impaired ABCA1-dependent Lipid Efflux and Hypoalphalipoproteinemia in Human Niemann-Pick type C Disease

The Journal of biological chemistry, 2003-08, Vol.278 (35), p.32569-32577

2003

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Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome

Human genetics, 1996-12, Vol.98 (6), p.685-690

1996

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Familial myelodysplastic syndrome with early age of onset

American journal of hematology, 2000-05, Vol.64 (1), p.53-58

2000

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Absence of fragile X syndrome in Nova Scotia

Journal of medical genetics, 2000-01, Vol.37 (1), p.77-79

2000

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Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

American journal of human genetics, 1991-08, Vol.49 (2), p.289-297

1991

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Linkage disequilibrium mapping of the Nova Scotia variant of Niemann-Pick disease

Clinical genetics, 1999-04, Vol.55 (4), p.248-255

1999

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Early nuclear events in lymphocyte proliferation: The role of DNA strand break repair and ADP ribosylation

Experimental cell research, 1986-10, Vol.166 (2), p.399-415

1986

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The Wiskott-Aldrich syndrome : refinement of the localization on Xp and identification of another closely linked marker locus, OATL1

Human genetics, 1992-02, Vol.88 (4), p.453-456

1992

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Increase in intracellular Na+: transmembrane signal for rejoining of DNA strand breaks in proliferating lymphocytes

Cancer research (Chicago, Ill.), 1987-10, Vol.47 (20), p.5397-5400

1987

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A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms

Journal of investigative medicine, 1995-04, Vol.43 (2), p.159

1995

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Limiting the Niemann-Pick type C critical region to a 1-cM interval

Clinical and investigative medicine, 1997-10, Vol.20 (5), p.339-343

1997

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Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome

Genomics (San Diego, Calif.), 1990-03, Vol.6 (3), p.568-571

1990

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Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction

Human genetics, 1989-10, Vol.83 (3), p.227-230

1989

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Increased Expression of Caveolin-1 in Heterozygous Niemann-Pick Type II Human Fibroblasts

Biochemical and biophysical research communications, 1997-07, Vol.236 (1), p.189-193

1997

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Structural and evolutionary implications of the packaging of DNA for differentiation and proliferation in the lymphocyte

Journal of molecular evolution, 1987-01, Vol.26 (3), p.173-179

1987

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Regulation of repair of naturally occurring DNA strand breaks in lymphocytes

Biochemical and biophysical research communications, 1984-07, Vol.122 (1), p.366-372

1984

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Qualitative assessment of the emotional and behavioural responses of haemophilia A carriers to negative experiences in their medical care: HA CARRIER RESPONSES TO THEIR MEDICAL CARE

Haemophilia : the official journal of the World Federation of Hemophilia, 2011-03, Vol.17 (2), p.237-245

2011

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Concurrent acute lymphoblastic leukemia and juvenile pilocytic astrocytoma in a pediatric patient

Journal of pediatric hematology/oncology, 2000-09, Vol.22 (5), p.451-453

2000

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Isolation and characterization of guanine auxotrophs in Neurospora crassa

Canadian journal of microbiology, 1980-12, Vol.26 (12), p.1412-1415

1980

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Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3-p11.22 region

Human genetics, 1993-10, Vol.92 (3), p.250-253

1993

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Mutations in NPC1 Highlight a Conserved NPC1-Specific Cysteine-Rich Domain

Familial essential thrombocythemia with spontaneous megakaryocyte colony formation and acquired JAK2 mutations

Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type C

The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097→T transversion in NPC1

Qualitative assessment of the emotional and behavioural responses of haemophilia A carriers to negative experiences in their medical care

Impaired ABCA1-dependent Lipid Efflux and Hypoalphalipoproteinemia in Human Niemann-Pick type C Disease

Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome

Familial myelodysplastic syndrome with early age of onset

Absence of fragile X syndrome in Nova Scotia

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

Linkage disequilibrium mapping of the Nova Scotia variant of Niemann-Pick disease

Early nuclear events in lymphocyte proliferation: The role of DNA strand break repair and ADP ribosylation

The Wiskott-Aldrich syndrome : refinement of the localization on Xp and identification of another closely linked marker locus, OATL1

Increase in intracellular Na+: transmembrane signal for rejoining of DNA strand breaks in proliferating lymphocytes

A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms

Limiting the Niemann-Pick type C critical region to a 1-cM interval

Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome

Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction

Increased Expression of Caveolin-1 in Heterozygous Niemann-Pick Type II Human Fibroblasts

Structural and evolutionary implications of the packaging of DNA for differentiation and proliferation in the lymphocyte

Regulation of repair of naturally occurring DNA strand breaks in lymphocytes

Qualitative assessment of the emotional and behavioural responses of haemophilia A carriers to negative experiences in their medical care: HA CARRIER RESPONSES TO THEIR MEDICAL CARE

Concurrent acute lymphoblastic leukemia and juvenile pilocytic astrocytoma in a pediatric patient

Isolation and characterization of guanine auxotrophs in Neurospora crassa

Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3-p11.22 region

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