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Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1

American journal of human genetics, 1998-02, Vol.62 (2), p.232-244

1998

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A common molecular basis for three inherited kidney stone diseases

Nature (London), 1996-02, Vol.379 (6564), p.445-449

1996

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Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBH Ok ), to Chromosome 19q13

American journal of human genetics, 1999, Vol.64 (1), p.189-195

1999

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Characterisation of Renal Chloride Channel, CLCN5, Mutations in Hypercalciuric Nephrolithiasis (Kidney Stones) Disorders

Human molecular genetics, 1997-08, Vol.6 (8), p.1233-1239

1997

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Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

The Journal of clinical investigation, 1997-03, Vol.99 (5), p.967-974

1997

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Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis)

Human molecular genetics, 1994-11, Vol.3 (11), p.2053-2059

1994

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Cloning and Characterization of CLCN5, the Human Kidney Chloride Channel Gene Implicated in Dent Disease (an X-Linked Hereditary Nephrolithiasis)

Genomics (San Diego, Calif.), 1995-10, Vol.29 (3), p.598-606

1995

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Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria

Kidney international, 2000-01, Vol.57 (1), p.232-239

2000

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Identification of Multiple Quantitative Trait Loci Linked to Prion Disease Incubation Period in Mice

Proceedings of the National Academy of Sciences - PNAS, 2001-05, Vol.98 (11), p.6279-6283

2001

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Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of μ-calpain as the multiple endocrine neoplasia type 1 gene

Human genetics, 1996-06, Vol.97 (6), p.732-741

1996

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A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene

Pediatric nephrology (Berlin, West), 1999-05, Vol.13 (4), p.278-283

1999

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Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1)

Human genetics, 1997-05, Vol.99 (5), p.585-589

1997

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Genetic Susceptibility to Prion Diseases in Humans and Mice

Current genomics, 2005-02, Vol.6 (1), p.1-11

2005

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Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

Kidney international, 1997-10, Vol.52 (4), p.911-916

1997

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Improved specificity of testing methods for filovirus antibodies

Journal of virological methods, 1993-06, Vol.43 (1), p.85-99

1993

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Long-Term Disease Surveillance in Bandundu Region, Democratic Republic of the Congo: A Model for Early Detection and Prevention of Ebola Hemorrhagic Fever

The Journal of infectious diseases, 1999-02, Vol.179 (Supplement-1), p.S274-S280

1999

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Hereditary bleeding disorders in Zimbabweans

Central African journal of medicine, 1987-03, Vol.33 (3), p.55

1987

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Isolated Case of Ebola Hemorrhagic Fever with Mucormycosis Complications, Kinshasa, Democratic Republic of the Congo

The Journal of infectious diseases, 1999-02, Vol.179 (Supplement-1), p.S15-S17

1999

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BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein

The EMBO journal, 2002-12, Vol.21 (23), p.6358-6366

2002

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Human Prion Protein with Valine 129 Prevents Expression of Variant CJD Phenotype

Science (American Association for the Advancement of Science), 2004-12, Vol.306 (5702), p.1793-1796

2004

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Consequences of Male Partner Violence for Low-Income Minority Women

Journal of marriage and family, 2004-05, Vol.66 (2), p.472-490

2004

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Infant search strategies with containers that move but do not alter the location at which contents can be found

Journal of experimental child psychology, 1983-06, Vol.35 (3), p.449-456

1983

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Accidental intake of tritiated water: a cytogenetic follow-up case on translocation stability and dose reconstruction

International journal of radiation biology, 1998-05, Vol.73 (5), p.543-547

1998

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A framework for environmental risk management

Lloyd, S E. C

2013

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Botswana's Tebelopele voluntary HIV counseling and testing network: use and client risk factors for HIV infection, 2000-2004

Journal of acquired immune deficiency syndromes (1999), 2006-10, Vol.43 (2), p.210

2006

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Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1

A common molecular basis for three inherited kidney stone diseases

Localization of Familial Benign Hypercalcemia, Oklahoma Variant (FBH Ok ), to Chromosome 19q13

Characterisation of Renal Chloride Channel, CLCN5, Mutations in Hypercalciuric Nephrolithiasis (Kidney Stones) Disorders

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis)

Cloning and Characterization of CLCN5, the Human Kidney Chloride Channel Gene Implicated in Dent Disease (an X-Linked Hereditary Nephrolithiasis)

Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria

Identification of Multiple Quantitative Trait Loci Linked to Prion Disease Incubation Period in Mice

Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of μ-calpain as the multiple endocrine neoplasia type 1 gene

A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene

Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1)

Genetic Susceptibility to Prion Diseases in Humans and Mice

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

Improved specificity of testing methods for filovirus antibodies

Long-Term Disease Surveillance in Bandundu Region, Democratic Republic of the Congo: A Model for Early Detection and Prevention of Ebola Hemorrhagic Fever

Hereditary bleeding disorders in Zimbabweans

Isolated Case of Ebola Hemorrhagic Fever with Mucormycosis Complications, Kinshasa, Democratic Republic of the Congo

BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein

Human Prion Protein with Valine 129 Prevents Expression of Variant CJD Phenotype

Consequences of Male Partner Violence for Low-Income Minority Women

Infant search strategies with containers that move but do not alter the location at which contents can be found

Accidental intake of tritiated water: a cytogenetic follow-up case on translocation stability and dose reconstruction

A framework for environmental risk management

Botswana's Tebelopele voluntary HIV counseling and testing network: use and client risk factors for HIV infection, 2000-2004

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