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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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Polymorphisms of multidrug resistance gene (MDR1) and cyclosporine absorption in de novo renal transplant patients

Transplantation, 2007-05, Vol.83 (10), p.1380

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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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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ALK+ lung adenocarcinoma in never smokers and long-term ex-smokers: prevalence and detection by immunohistochemistry and fluorescence in situ hybridization

Virchows Archiv : an international journal of pathology, 2016-11, Vol.469 (5), p.533-540

2016

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Cutaneous manifestations of angioimmunoblastic T-cell lymphoma: clinical and pathological characteristics

The American journal of dermatopathology, 2015-04, Vol.37 (4), p.274-283

2015

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Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution

Clinical genetics, 2019-08, Vol.96 (2), p.163-168

2019

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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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Partial regression of primary cutaneous melanoma: Is there an association with sub-clinical sentinel lymph node metastasis?

The American journal of dermatopathology, 2003-10, Vol.25 (5), p.371-376

2003

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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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Nevus cells in lymph nodes: An association with congenital cutaneous nevi

The American journal of dermatopathology, 2002-02, Vol.24 (1), p.1-5

2002

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Acute promyelocytic leukemia: A novel PML RARα fusion that generates a frameshift in the RARα transcript and ATRA resistance

Leukemia & lymphoma, 2007-01, Vol.48 (3), p.489-496

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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Acute promyelocytic leukemia: a novel PML/RARalpha fusion that generates a frameshift in the RARalpha transcript and ATRA resistance

Leukemia & lymphoma, 2007-03, Vol.48 (3), p.489-496

2007

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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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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

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

1986

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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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Inhibition of adenine and hypoxanthine uptake by guanosine in conidia of Neurospora crassa

Canadian journal of biochemistry, 1981-11, Vol.59 (11-12), p.933

1981

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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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Regulation of Lymphocyte Proliferation by a Continuous Production and Repair of DNA Strand Breaks

ADP-Ribosylation of Proteins, p.417-423

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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

Polymorphisms of multidrug resistance gene (MDR1) and cyclosporine absorption in de novo renal transplant patients

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

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

ALK+ lung adenocarcinoma in never smokers and long-term ex-smokers: prevalence and detection by immunohistochemistry and fluorescence in situ hybridization

Cutaneous manifestations of angioimmunoblastic T-cell lymphoma: clinical and pathological characteristics

Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution

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

Partial regression of primary cutaneous melanoma: Is there an association with sub-clinical sentinel lymph node metastasis?

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

Nevus cells in lymph nodes: An association with congenital cutaneous nevi

Acute promyelocytic leukemia: A novel PML RARα fusion that generates a frameshift in the RARα transcript and ATRA resistance

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

Acute promyelocytic leukemia: a novel PML/RARalpha fusion that generates a frameshift in the RARalpha transcript and ATRA resistance

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

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

Early nuclear events in lymphocyte proliferation

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

Inhibition of adenine and hypoxanthine uptake by guanosine in conidia of Neurospora crassa

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

Regulation of Lymphocyte Proliferation by a Continuous Production and Repair of DNA Strand Breaks

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