H. Peretz

发表

Improved method for genotyping apolipoprotein E polymorphisms by a PCR-based assay simultaneously utilizing two distinct restriction enzymes.

U Seligsohn, A. Zivelin, N. Rosenberg, 1997, Clinical chemistry.

A 13‐bp deletion in αIIb gene is a founder mutation that predominates in Palestinian‐Arab patients with Glanzmann thrombasthenia

M. Landau, B. Coller, G. Kenet, 2005, Journal of thrombosis and haemostasis : JTH.

The Human Platelet IIb Gene Is Not Closely Linked to Its Integrin Partner β3

M. Poncz, M. A. Thornton, M. Korostishevsky, 1999 .

Cys 618 Arg mutation in the RET proto‐oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting

A. Biton, E. Yakobson, H. Peretz, 1997, Human mutation.

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.

Warfarin therapy is feasible in CYP2C9*3 homozygous patients.

J. Ablin, S. Cabili, A. Eldor, 2004, European journal of internal medicine.

Warfarin therapy in a patient homozygous for the CYP2C9 3 allele.

J. Ablin, S. Cabili, H. Peretz, 2002, The Israel Medical Association journal : IMAJ.

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

J. Malvehy, V. Sobolev, G. Peters, 2003, European Journal of Human Genetics.

Synovial and serum levels of methotrexate during methotrexate therapy of rheumatoid arthritis.

M. Yaron, R. Segal, D. Caspi, 1989, British journal of rheumatology.

Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews.

D. Goldstein, D. Reich, N. Bradman, 1999, American journal of human genetics.

FUSION OF INTACT HUMAN ERYTHROCYTES AND ERYTHROCYTE GHOSTS

A. Loyter, H. Peretz, Z. Toister, 1974, The Journal of cell biology.

Association of the -757T>C polymorphism in the CRP gene with circulating C-reactive protein levels and carotid atherosclerosis.

N. Bornstein, I. Shapira, S. Berliner, 2009, Thrombosis research.

A common ancestral mutation (C128X) occurring in 11 non‐Jewish families from the UK with factor XI deficiency

R. Mountford, P. Bolton-Maggs, S. Keeney, 2004, Journal of thrombosis and haemostasis : JTH.

Golgi apparatus formation, but impair its transport from the endoplasmic reticulum to the patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in

V. Sobolev, N. Rosenberg, H. Peretz, 2013 .

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure–function correlations of αIIbβ3 integrin (ITGA2B, ITGB3)

M. Landau, B. Coller, A. Srivastava, 2006, Human mutation.

Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus.

V. Sobolev, N. Rosenberg, H. Peretz, 2003, Blood.

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.

Gender differences in the expression of erythrocyte aggregation in relation to Bβ-fibrinogen gene polymorphisms in apparently healthy individuals

N. Bornstein, I. Shapira, S. Berliner, 2006, Thrombosis and Haemostasis.

Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene.

B. Coller, P. Newman, N. Rosenberg, 1995, Blood.

A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene.

C. Mannhalter, M. Horellou, A. Zivelin, 1998, Blood.

Differential Proliferative Characteristics of Alveolar Fibroblasts in Interstitial Lung Diseases: Regulative Role of IL-1 and PGE2

J. Greif, E. Fireman, M. Topilsky, 1994, Mediators of inflammation.

Screening for Tumour Suppressor p16(CDKN2A) Germline Mutations in Israeli Melanoma Families

R. Shafir, A. Zlotogorski, S. Brenner, 1998, Clinical chemistry and laboratory medicine.

Glanzmann thrombasthenia: new insights from an historical perspective.

B. Coller, P. Newman, H. Peretz, 1994, Seminars in hematology.

alternative splicing in the glycoprotein IIb gene Glanzmann's thrombasthenia associated with deletion-insertion and

B. Coller, P. Newman, N. Rosenberg, 2011 .

Apolipoprotein-E Genotype and the Risk of Developing Cholelithiasis following Bariatric Surgery: a Clue to Prevention of Routine Prophylactic Cholecystectomy

A. Szold, F. Konikoff, H. Peretz, 2002, Obesity surgery.

Warfarin therapy is feasible in CYP2C9*3 homozygous patients.

J. Ablin, S. Cabili, A. Eldor, 2005, European journal of internal medicine.

Cytokine network in nonresponding chronic hepatitis C patients with genotype 1: role of triple therapy with interferon alpha, ribavirin, and ursodeoxycholate.

Z. Halpern, D. Sapir, L. Blendis, 2001, Clinical biochemistry.

The human platelet alphaIIb gene is not closely linked to its integrin partner beta3.

M. Poncz, M. A. Thornton, M. Korostishevsky, 1999, Blood.

Urine metabolomics reveals novel physiologic functions of human aldehyde oxidase and provides biomarkers for typing xanthinuria

D. Landau, H. Shalev, D. Watson, 2012, Metabolomics.

Pheochromocytoma due to unilateral adrenal medullary hyperplasia

R. Luboshitzky, H. Peretz, A. Ishay, 1997, Clinical endocrinology.

Current strategy for genetic analysis of haemophilia A families

U. Martinowitz, R. Dardik, H. Peretz, 1996, Haemophilia : the official journal of the World Federation of Hemophilia.

Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.

F. Bauduer, L. Ducout, N. Rosenberg, 2002, Blood.

Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia.

L. Trakhtenbrot, R. Dardik, N. Rosenberg, 2001, Blood.

The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin.

M. Mittelman, O. Shpilberg, B. Brenner, 1997, Blood.

One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews.

A. Chetrit, O. Shpilberg, A. Zivelin, 1995, Blood.

Molecular characterization of four novel mutations causing factor VII deficiency.

H. Tamary, R. Zaizov, B. Brenner, 2000, The hematology journal : the official journal of the European Haematology Association.

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

H. Mandel, J. Graessler, F. Bittner, 2021, Biomedicines.

XDH gene mutation is the underlying cause of classical xanthinuria: a second report.

M. Yaron, U. Liberman, T. Hosoya, 2000, Kidney international.

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro‐Asian stone‐forming belt

D. Steinberg, I. Krause, H. Shalev, 2019, JIMD reports.

Evidence for megakaryocyte engraftment following reduced-intensity conditioning.

B. Coller, D. French, S. Fruchtman, 2004, Experimental hematology.

Melatonin and mental capacities in newborn infants.

N. Zisapel, H. Als, G. McAnulty, 2011, The Journal of pediatrics.

Lack of phosphatase activity in the "ultra fast" isoenzyme band.

H. Peretz, S. Usher, E. Graff, 1986, Clinical Chemistry.

Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families

G. Peters, E. Friedman, S. Brookes, 2000, European Journal of Human Genetics.

Medullary thyroid cancer: a retrospective analysis of a cohort treated at a single tertiary care center between 1970 and 2005.

C. Benbassat, I. Shimon, S. Grozinsky-Glasberg, 2007, Thyroid : official journal of the American Thyroid Association.

Long‐term cerebral effects of small doses of X‐irradiation in childhood as manifested in adult visual evoked responses

B. Modan, E. Ron, H. Peretz, 1980, Annals of neurology.

Point mutations regarded as missense mutations cause splicing defects in the factor XI gene

F. Bauduer, A. Zivelin, N. Rosenberg, 2011, Journal of thrombosis and haemostasis : JTH.

Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17

R. Berkowitz, C. Eng, D. French, 1998, British journal of haematology.

Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta3) is a second mutation in Iraqi Jews that stemmed from a distinct founder.

R. Dardik, N. Rosenberg, H. Peretz, 1997, Blood.

Glycohaemoglobin as a determinant of increased fibrinogen concentrations and low‐grade inflammation in apparently healthy nondiabetic individuals

I. Shapira, S. Berliner, O. Rogowski, 2007, Clinical endocrinology.

Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients

B. Coller, M. Chandy, S. Nair, 2006, Journal of thrombosis and haemostasis : JTH.

Detection of the Glanzmann's Thrombasthenia Mutations in Arab and Iraqi-Jewish Patients by Polymerase Chain Reaction and Restriction Analysis of Blood or Urine Samples

B. Coller, P. Newman, H. Peretz, 1991, Thrombosis and Haemostasis.

Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population

A. Paterson, D. Hogg, E. Yakobson, 2005, Journal of Medical Genetics.

Disulfide bond disruption by a beta 3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active alpha IIb beta 3.

M. Landau, B. Coller, N. Rosenberg, 2007, Thrombosis and haemostasis.

Increased fibrosis progression rates in hepatitis C patients carrying the prothrombin G20210A mutation.

M. Leshno, S. Berliner, S. Fishman, 2011, World journal of gastroenterology.

ancestral Cys38Arg mutation in the factor XI gene Factor XI deficiency in French Basques is caused predominantly by an

F. Bauduer, L. Ducout, N. Rosenberg, 2013 .

Molecular biology techniques in the diagnosis of monogenic diseases.

J. Epplen, C. Wagener, P. Vihko, 1994, Journal of the International Federation of Clinical Chemistry.

Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.

H. Shalev, H. Peretz, D. Levartovsky, 2007, Molecular genetics and metabolism.

Role of CYP2D6 polymorphism in predicting liver fibrosis progression rate in Caucasian patients with chronic hepatitis C

M. Leshno, Z. Halpern, L. Blendis, 2006, Liver international : official journal of the International Association for the Study of the Liver.

Disulfide bond disruption by a β3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active αIIbβ3

M. Landau, B. Coller, N. Rosenberg, 2007, Thrombosis and Haemostasis.

A 14‐bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency

H. Peretz, U. Seligsohn, A. Zivelin, 1996, Human mutation.

The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families.

A. Orr-Urtreger, Y. Yaron, H. Peretz, 2000, Genetic testing.

Highly elevated lactate dehydrogenase level in a healthy individual: A case of macro‐LDH

A. Eldor, H. Peretz, C. Perry, 1997, American journal of hematology.

Triggered C‐reactive protein (CRP) concentrations and the CRP gene −717A>G polymorphism in acute stroke or transient ischemic attack

S. Berliner, I. Shapira, S. Berliner, 2007, European journal of neurology.

Melatonin and mental capacities in newborn infants.

N. Zisapel, H. Als, G. McAnulty, 2011, The Journal of pediatrics.

Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews

H. Peretz, R. Mor-cohen, S. Usher, 2013, Journal of thrombosis and haemostasis : JTH.