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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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Genetic profiles of different subsets of Merkel cell carcinoma show links between combined and pure MCPyV-negative tumors

Human pathology, 2018-01, Vol.71, p.117-125

2018

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Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1

Journal of gastroenterology and hepatology, 2013-03, Vol.28 (3), p.560-564

2013

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Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2

Journal of human genetics, 2011-05, Vol.56 (5), p.390-397

2011

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Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia

The Journal of molecular diagnostics : JMD, 2010-03, Vol.12 (2), p.197-203

2010

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Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females

European journal of human genetics : EJHG, 2007-06, Vol.15 (6), p.628-637

2007

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Factor V Leiden, prothrombin gene mutation, and thrombosis risk in patients with antiphospholipid antibodies

Journal of rheumatology, 2002-08, Vol.29 (8), p.1683

2002

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Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice

European journal of human genetics : EJHG, 2013-12, Vol.21 (12), p.1396-1402

2013

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Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia: A Tertiary Center Experience

The Journal of molecular diagnostics : JMD, 2010-03, Vol.12 (2), p.197-203

2010

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Detection of tyrosinase mRNA in the sentinel lymph nodes of melanoma patients is not a predictor of short-term disease recurrence

Modern pathology, 2007-04, Vol.20 (4), p.427-434

2007

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JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I

Pediatric Blood & Cancer, 2008-11, Vol.51 (5), p.689-691

2008

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Case of acute lymphoblastic leukemia presenting with t(14;18)/BCL2, t(8;14)/cMYC, and t(1;2)/FCGR2B

American journal of hematology, 2003-10, Vol.74 (2), p.112-118

2003

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Novel splice‐site mutation in ATP8B1 results in atypical P rogressive F amilial I ntrahepatic C holestasis T ype 1

Journal of gastroenterology and hepatology, 2013-03, Vol.28 (3), p.560-564

2013

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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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Hemophilia a Carriers Experience Errors and Deficiencies in Care Leading to Emotional and Behavioral Responses That Could Further Compromise Their Care

Blood, 2008-11, Vol.112 (11), p.4502-4502

2008

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Familial Essential Thrombocythemia Showing Spontaneous Megakaryocyte Colony Formation and Acquired JAK2 Mutations without a Germline Mutation in C-MPL or TPO

Blood, 2007-11, Vol.110 (11), p.4655-4655

2007

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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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A Rare Case of JAK2 V617F Positive Polycythemia Vera in a Child with Neurofibromatosis Type I

Blood, 2007-11, Vol.110 (11), p.4661-4661

2007

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FISH mapping and inter-Alu fingerprinting define the YAC contig map around the centromeric region of human chromosome 18

Genome, 1998-06, Vol.41 (3), p.468

1998

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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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Altered expression of leucocyte sialoglycoprotein in Wiskott-Aldrich syndrome is associated with a specific defect in O-glycosylation

Biochemistry and cell biology, 1989-09, Vol.67 (9), p.503

1989

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

Genetic profiles of different subsets of Merkel cell carcinoma show links between combined and pure MCPyV-negative tumors

Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1

Familial skewed X-chromosome inactivation linked to a component of the cohesin complex, SA2

Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females

Factor V Leiden, prothrombin gene mutation, and thrombosis risk in patients with antiphospholipid antibodies

Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice

Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia: A Tertiary Center Experience

Detection of tyrosinase mRNA in the sentinel lymph nodes of melanoma patients is not a predictor of short-term disease recurrence

JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I

Case of acute lymphoblastic leukemia presenting with t(14;18)/BCL2, t(8;14)/cMYC, and t(1;2)/FCGR2B

Novel splice‐site mutation in ATP8B1 results in atypical P rogressive F amilial I ntrahepatic C holestasis T ype 1

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

Hemophilia a Carriers Experience Errors and Deficiencies in Care Leading to Emotional and Behavioral Responses That Could Further Compromise Their Care

Familial Essential Thrombocythemia Showing Spontaneous Megakaryocyte Colony Formation and Acquired JAK2 Mutations without a Germline Mutation in C-MPL or TPO

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

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

A Rare Case of JAK2 V617F Positive Polycythemia Vera in a Child with Neurofibromatosis Type I

FISH mapping and inter-Alu fingerprinting define the YAC contig map around the centromeric region of human chromosome 18

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

Altered expression of leucocyte sialoglycoprotein in Wiskott-Aldrich syndrome is associated with a specific defect in O-glycosylation

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

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

Familial myelodysplastic syndrome with early age of onset

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