D. Kastner

发表

Amyloidosis in familial mediterranean fever is associated with a specific ancestral haplotype in the MEFV locus.

J. Rotter, T. Shohat, M. Shohat, 1998, Molecular genetics and metabolism.

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

F. Collins, L. Deaven, R. Moyzis, 1997, Cell.

Mendelian diseases among Roman Jews: implications for the origins of disease alleles.

H. Ostrer, K. Nafa, L. Luzzatto, 1999, The Journal of clinical endocrinology and metabolism.

MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever.

M. Pras, E. Pras, Y. Shinar, 1999, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Familial Mediterranean fever: the genetics of inflammation.

D. Kastner, 1998, Hospital practice.

Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.

L. Kruglyak, J. Rotter, R. Richards, 1996, American journal of human genetics.

Clinical differences between North African and Iraqi Jews with familial Mediterranean fever.

M. Pras, E. Pras, E. Pras, 1998, American journal of medical genetics.

Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis

T. Shohat, M. Shohat, G. Oǧur, 1999, European Journal of Human Genetics.

Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

S. Bale, M. Pras, E. Pras, 1997, American journal of human genetics.

Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: two diseases with distinct clinical, serologic, and genetic features.

M. Pras, E. Pras, J. V. D. van der Meer, 1997, The Journal of rheumatology.

Mendelian diseases among Roman Jews: implications for the origins of disease alleles.

H. Ostrer, K. Nafa, L. Luzzatto, 1999, The Journal of clinical endocrinology and metabolism.

Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever.

M. Pras, E. Pras, D. Koziol, 2000, The Journal of rheumatology.

Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behçet’s disease

E. Remmers, D. Ustek, Y. Ozyazgan, 2016, Genes and Immunity.

Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives.

M. Pras, E. Pras, E. Pras, 1998, American journal of medical genetics.

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

D. Papanicolaou, D. Kastner, G. Chrousos, 1996, The Journal of clinical investigation.

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

F. Collins, L. Deaven, R. Moyzis, 1997, Cell.

Genomic organization of SLC3A1, a transporter gene mutated in cystinuria.

E. Pras, N. Raben, R. Sood, 1996, Genomics.

The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases.

D. Kastner, M. Centola, I. Aksentijevich, 1998, Human molecular genetics.

Lack of Evidence for an Association between Two Genetic Polymorphisms in the Tumor Necrosis Factor Receptor 1 Gene and Multiple Sclerosis in Ashkenazi Jews

A. Achiron, E. Pras, I. Aksentijevich, 2001, European Neurology.

Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1 using historical recombinants in Libyan Jewish cystinuria patients.

Y. Kreiss, E. Pras, I. Aksentijevich, 1999, Genomics.

Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.

D. Kastner, M. Pras, A. Steinberg, 1992, The New England journal of medicine.

The deficiency of adenosine deaminase type 2-results of therapeutic intervention

W. Flegel, I. Aksentijevich, D. Kastner, 2015, Pediatric Rheumatology.

A2.35 TRNT1 missense mutations define a new periodic fever syndrome

M. Gadina, K. Calvo, M. Stoffels, 2015 .

O 02-P 039 A comparative study about ERAP 1 polymorphisms in Behçet syndrome and ankylosing spondylitis Italian patients

N. Horita, A. Meguro, N. Mizuki, 2018 .

Apolipoprotein E genotypes in AA and AL amyloidoses

W. Markesbery, R. Kyle, M. Pras, 1995 .

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

H. Ostrer, D. Kastner, M. Pras, 1999, American journal of human genetics.

Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study

A. Allen, P. Merkel, V. Kraus, 2023, medRxiv.

A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.

F. Collins, N. Doggett, J. Rotter, 1997, Genomics.

A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.

M. Frydman, E. Pras, H. Garzozi, 2001, The Israel Medical Association journal : IMAJ.

PW02-002 - Single MVK mutation and recurrent fevers

I. Aksentijevich, D. Kastner, D. Goldsmith, 2013, Pediatric Rheumatology.

IL 2 RA and IL 7 RA genes confer susceptibility for multiple sclerosis in two independent European populations

F. Holsboer, G. Illei, E. Remmers, 2008 .