N. Cohen

发表

Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene.

R. Bergman, E. Sprecher, P. Frossard, 1999, The Journal of investigative dermatology.

Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias.

R. Bergman, E. Sprecher, R. Szargel, 1999, American journal of human genetics.

Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene.

R. Bergman, E. Sprecher, R. Szargel, 2000, Journal of the American Academy of Dermatology.

Non-isotopic and sensitive method for diagnosis of maternally-inherited diabetes and deafness

J. Dausset, P. Froguel, H. Blanché, 1994, Diabetologia.

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

T. Dierks, H. Mandel, J. Reiss, 1998, Nature Genetics.

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

Ellis J. Neufeld, Daniel F. Schorderet, E. Neufeld, 1999, Nature Genetics.

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Timothy Barrett, Hanna Mandel, Adel Shalata, 1999, Nature Genetics.

The spectrum of mutations, including four novel ones, in the thiamine‐responsive megaloblastic anemia gene SLC19A2 of eight families

J. Cayuela, A. Baruchel, H. Mandel, 2000, Human mutation.

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity

H. Mandel, E. Neufeld, T. Raz, 1998, Human Genetics.

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

H. Mandel, A. Stagg, E. Neufeld, 1997, American journal of human genetics.

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

H. Mandel, Ann Saada, S. Eriksson, 2001, Nature Genetics.

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

H. Mandel, J. Taanman, N. Cohen, 2002, Annals of neurology.

Insertion/deletion polymorphism of the angiotensin-converting enzyme gene is strongly associated with coronary heart disease in non-insulin-dependent diabetes mellitus.

F. Cambien, P. Froguel, H. Blanché, 1994, Proceedings of the National Academy of Sciences of the United States of America.

A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.

R. Szargel, V. Labay, N. Cohen, 2003, Kidney international.

Atrichia with papular lesions maps to 8p in the region containing the human hairless gene.

R. Bergman, E. Sprecher, T. Raz, 1998, American journal of medical genetics.

Predisposing gene for early-onset prostate cancer, localized on chromosome 1q42.2-43.

W. Vogel, O. Cussenot, A. Valéri, 1998, American journal of human genetics.

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

I. Perlman, R. Bergman, G. Richard, 2001, Nature Genetics.

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

H. Mandel, M. Berant, J. Reiss, 1998, American journal of human genetics.

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

H. Mandel, J. Reiss, N. Cohen, 2000, Prenatal diagnosis.

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

J. Reiss, R. Mendel, N. Cohen, 1999, American journal of human genetics.

Six Mutations in the Glucokinase Gene Identified in MODY by Using a Nonradioactive Sensitive Screening Technique

P. Froguel, H. Blanché, P. Czernichow, 1994, Diabetes.

Lack of Plasma Membrane Targeting of a G172D Mutant Thiamine Transporter Derived from Rogers Syndrome Family

Y. Assaraf, A. Aronheim, N. Cohen, 2002, Molecular medicine.