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Mutation update on the CHD7 gene involved in CHARGE syndrome

Human mutation, 2012-08, Vol.33 (8), p.1149-1160

2012

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Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

Scientific reports, 2022-09, Vol.12 (1), p.14959-14959, Article 14959

2022

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Phenotypic subregions within the split-hand/foot malformation 1 locus

Human genetics, 2016-03, Vol.135 (3), p.345-357

2016

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Possible roles for activating RAS mutations in the MGUS to MM transition and in the intramedullary to extramedullary transition in some plasma cell tumors

Blood, 2005-01, Vol.105 (1), p.317-323

2005

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Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1298-1313

2011

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Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

Gene, 2015-05, Vol.563 (1), p.10-16

2015

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Identification of translocation products but not K-RAS mutations in memory B cells from patients with multiple myeloma

Haematologica (Roma), 2010-10, Vol.95 (10), p.1730-1737

2010

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Characterization of potential CD138 negative myeloma "stem cells"

Haematologica (Roma), 2012-06, Vol.97 (6), p.e18-e20

2012

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The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

Movement disorders, 2012-07, Vol.27 (8), p.1034-1040

2012

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Occurrence of dysregulated oncogenes in primary plasma cells representing consecutive stages of myeloma pathogenesis: indications for different disease entities

British journal of haematology, 2003-10, Vol.123 (2), p.253-262

2003

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Dysregulation of CD47 and the ligands thrombospondin 1 and 2 in multiple myeloma

British journal of haematology, 2007-09, Vol.138 (6), p.756-760

2007

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Myeloma cell expression of 10 candidate genes for osteolytic bone disease. Only overexpression of DKK1 correlates with clinical bone involvement at diagnosis

British journal of haematology, 2008-01, Vol.140 (1), p.25-35

2008

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Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss

Mitochondrion, 2013-11, Vol.13 (6), p.841-845

2013

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Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

European journal of medical genetics, 2012-01, Vol.55 (1), p.37-42

2012

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In Multiple Myeloma Clonotypic CD38 − /CD19 + /CD27 + Memory B Cells Recirculate Through Bone Marrow, Peripheral Blood and Lymph Nodes

Leukemia & lymphoma, 2004-07, Vol.45 (7), p.1413-1417

2004

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Upregulated MCL1 mRNA expression in multiple myeloma lacks association with survival

British journal of haematology, 2009-03, Vol.144 (6), p.961-963

2009

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GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland

International journal of audiology, 2012-06, Vol.51 (6), p.433-436

2012

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Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

American journal of medical genetics. Part A, 2011-12, Vol.155A (12), p.2964-2969

2011

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Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

International journal of pediatric otorhinolaryngology, 2011-01, Vol.75 (1), p.89-94

2011

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Regulation of the CD56 promoter and its association with proliferation, anti-apoptosis and clinical factors in multiple myeloma

Leukemia & lymphoma, 2009-01, Vol.50 (2), p.236-246

2009

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Myeloma Cell Expression of Candidate Genes for Osteolytic Bone Disease - Over-Expression of DKK1 Correlates with Clinical Bone Involvment

Blood, 2006-11, Vol.108 (11), p.3406-3406

2006

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Identification of ID‐1 as a potential target gene of MMSET in multiple myeloma

British journal of haematology, 2005-09, Vol.130 (5), p.700-708

2005

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In Multiple Myeloma Clonotypic CD38 sub( - )/CD19 sub( + )/CD27 sub( + ) Memory B Cells Recirculate Through Bone Marrow, Peripheral Blood and Lymph Nodes

Leukemia & lymphoma, 2004-01, Vol.45 (7), p.1413-1417

2004

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Expression of HOXA Genes in Patients with Multiple Myeloma

Leukemia & lymphoma, 2004-06, Vol.45 (6), p.1215-1217

2004

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Lower versus Higher Hemoglobin Threshold for Transfusion in Septic Shock

The New England journal of medicine, 2014-10, Vol.371 (15), p.1381-1391

2014

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Mutation update on the CHD7 gene involved in CHARGE syndrome

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

Phenotypic subregions within the split-hand/foot malformation 1 locus

Possible roles for activating RAS mutations in the MGUS to MM transition and in the intramedullary to extramedullary transition in some plasma cell tumors

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

Identification of translocation products but not K-RAS mutations in memory B cells from patients with multiple myeloma

Characterization of potential CD138 negative myeloma "stem cells"

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

Occurrence of dysregulated oncogenes in primary plasma cells representing consecutive stages of myeloma pathogenesis: indications for different disease entities

Dysregulation of CD47 and the ligands thrombospondin 1 and 2 in multiple myeloma

Myeloma cell expression of 10 candidate genes for osteolytic bone disease. Only overexpression of DKK1 correlates with clinical bone involvement at diagnosis

Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss

Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

In Multiple Myeloma Clonotypic CD38 − /CD19 + /CD27 + Memory B Cells Recirculate Through Bone Marrow, Peripheral Blood and Lymph Nodes

Upregulated MCL1 mRNA expression in multiple myeloma lacks association with survival

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

Regulation of the CD56 promoter and its association with proliferation, anti-apoptosis and clinical factors in multiple myeloma

Myeloma Cell Expression of Candidate Genes for Osteolytic Bone Disease - Over-Expression of DKK1 Correlates with Clinical Bone Involvment

Identification of ID‐1 as a potential target gene of MMSET in multiple myeloma

In Multiple Myeloma Clonotypic CD38 sub( - )/CD19 sub( + )/CD27 sub( + ) Memory B Cells Recirculate Through Bone Marrow, Peripheral Blood and Lymph Nodes

Expression of HOXA Genes in Patients with Multiple Myeloma

Lower versus Higher Hemoglobin Threshold for Transfusion in Septic Shock

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