Works by Hava Peretz

Results: 18

Medullary Thyroid Cancer: A Retrospective Analysis of a Cohort Treated at a Single Tertiary Care Center Between 1970 and 2005.

Published in:

Thyroid, 2007, v. 17, n. 6, p. 549, doi. 10.1089/thy.2006.0229

By:

Simona Grozinsky-Glasberg;
Carlos A. Benbassat;
Gloria Tsvetov;
Rafael Feinmesser;
Hava Peretz;
Ilan Shimon;
Mordechai Lapidot

Publication type:

Article

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

Published in:

Biomedicines, 2021, v. 9, n. 7, p. 788, doi. 10.3390/biomedicines9070788

By:

Peretz, Hava;
Lagziel, Ayala;
Bittner, Florian;
Kabha, Mustafa;
Shtauber-Naamati, Meirav;
Zhuravel, Vicki;
Usher, Sali;
Rump, Steffen;
Wollers, Silke;
Bork, Bettina;
Mandel, Hanna;
Falik-Zaccai, Tzipora;
Kalfon, Limor;
Graessler, Juergen;
Zeharia, Avraham;
Heib, Nasser;
Shalev, Hannah;
Landau, Daniel;
Levartovsky, David

Publication type:

Article

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

Published in:

Clinical Chemistry & Laboratory Medicine, 1998, v. 36, n. 8, p. 645

By:

Yakobson, Emanuel A.;
Zlotogorski, Avraham;
Shafir, Rafael;
Cohen, Meir;
Icekson, Michael;
Landau, Marina;
Brenner, Sarah;
Usher, Sally;
Peretz, Hava

Publication type:

Article

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of αIIb β3 integrin ( ITGA2B, ITGB3).

Published in:

Human Mutation, 2006, v. 27, n. 4, p. 359, doi. 10.1002/humu.20304

By:

Peretz, Hava;
Rosenberg, Nurit;
Landau, Meytal;
Usher, Saly;
Nelson, Everette J.R.;
Mor-Cohen, Ronit;
French, Deborah L.;
Mitchell, Beau W.;
Nair, Sukesh C.;
Chandy, Mammen;
Coller, Barry S.;
Srivastava, Alok;
Seligsohn, Uri

Publication type:

Article

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.

Published in:

Human Mutation, 1997, v. 10, n. 2, p. 155, doi. 10.1002/(SICI)1098-1004(1997)10:2<155::AID-HUMU7>3.0.CO;2-J

By:

Peretz, Hava;
Luboshitsky, Rafael;
Baron, Ela;
Biton, Amnon;
Gershoni, Ruth;
Usher, Saly;
Grynberg, Elisheva;
Yakobson, Emanuel;
Graff, Eran;
Lapidot, Mordechai

Publication type:

Article

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.

Published in:

Human Mutation, 1996, v. 8, n. 1, p. 77, doi. 10.1002/(SICI)1098-1004(1996)8:1<77::AID-HUMU12>3.0.CO;2-O

By:

Peretz, Hava;
Zivelin, Ariella;
Usher, Saly;
Seligsohn, Uri

Publication type:

Article

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

Published in:

Liver International, 2006, v. 26, n. 3, p. 279, doi. 10.1111/j.1478-3231.2005.01236.x

By:

Fishman, Sigal;
Lurie, Yoav;
Peretz, Hava;
Morad, Tova;
Grynberg, Elisheva;
Blendis, Laurie M;
Leshno, Moshe;
Brazowski, Eli;
Rosner, Guy;
Halpern, Zamir;
Oren, Ran

Publication type:

Article

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

Published in:

Clinical Endocrinology, 2008, v. 68, n. 2, p. 182, doi. 10.1111/j.1365-2265.2007.03017.x

By:

Rogowski, Ori;
Shapira, Itzhak;
Peretz, Hava;
Berliner, Shlomo

Publication type:

Article

Pheochromocytoma due to unilateral adrenal medullary hyperplasia.

Published in:

Clinical Endocrinology, 1997, v. 47, n. 5, p. 613, doi. 10.1046/j.1365-2265.1997.2841134.x

By:

Qupty, Ghali;
Ishay, Avraham;
Peretz, Hava;
Dharan, Muralee;
Kaufman, Nathan;
Luboshitzky, Rafael

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 4, p. 288, doi. 10.1038/sj.ejhg.5200961

By:

Yakobson, Emanuel;
Eisenberg, Shlomit;
Isacson, Ruth;
Halle, David;
Levy-Lahad, Efrat;
Catane, Raphael;
Safro, Mark;
Sobolev, Vladimir;
Huot, Thomas;
Peters, Gordon;
Ruiz, Anna;
Malvehy, Josep;
Puig, Suzana;
Chompret, Agnes;
Avril, Marie-Fracoise;
Shafir, Raphael;
Peretz, Hava;
Paillerets, Brigitte Bressac-de

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 8, p. 590, doi. 10.1038/sj.ejhg.5200505

By:

Yakobson, Emanuel;
Shemesh, Pnina;
Azizi, Esther;
Winkler, Eyal;
Lassam, Norman;
Hogg, David;
Brookes, Sharon;
Peters, Gordon;
Lotem, Michal;
Zlotogorski, Abraham;
Landau, Marina;
Safro, Mark;
Shafir, Raphael;
Friedman, Eitan;
Peretz, Hava

Publication type:

Article

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

Published in:

American Journal of Hematology, 1997, v. 55, n. 1, p. 39, doi. 10.1002/(SICI)1096-8652(199705)55:1<39::AID-AJH7>3.0.CO;2-4

By:

Perry, Chava;
Peretz, Hava;
Ben-Tal, Ofira;
Eldor, Amiram

Publication type:

Article

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

Published in:

Kidney International, 2000, v. 57, n. 6, p. 2215, doi. 10.1046/j.1523-1755.2000.00082.x

By:

Levartovsky, David;
Lagziel, Ayala;
Sperling, Oded;
Liberman, Uri;
Yaron, Michael;
Hosoya, Tatsuo;
Ichida, Kimiyoshi;
Peretz, Hava

Publication type:

Article

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

Published in:

Metabolomics, 2012, v. 8, n. 5, p. 951, doi. 10.1007/s11306-011-0391-3

By:

Peretz, Hava;
Watson, David;
Blackburn, Gavin;
Zhang, Tong;
Lagziel, Ayala;
Shtauber-Naamati, Meirav;
Morad, Tova;
Keren-Tardai, Elena;
Greenshpun, Victoria;
Usher, Sali;
Shalev, Hanna;
Landau, Daniel;
Levartovsky, David

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 45, doi. 10.1002/jmd2.12077

By:

Peretz, Hava;
Korostishevsky, Michael;
Steinberg, David M.;
Kabha, Mustafa;
Usher, Sali;
Krause, Irit;
Shalev, Hannah;
Landau, Daniel;
Levartovsky, David

Publication type:

Article

Mendelian Diseases among Roman Jews: Implications for the Origins of Disease Alleles.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4405, doi. 10.1210/jcem.84.12.6268

By:

ODDOUX, CAROLE;
GUILLEN-NAVARRO, ENCARNACION;
DITIVOLI, CLAUDIO;
DICAVE, ELVIRA;
CILIO, MARIA ROBERTA;
CLAYTON, C. MARK;
NELSON, HOLLY;
SARAFOGLOU, KYRIAKIE;
MCCAIN, NICOLE;
PERETZ, HAVA;
SELIGSOHN, URI;
LUZZATTO, LUCIO;
NAFA, KHEDOUJA;
NARDI, MICHAEL;
KARPATKIN, MARGARET;
AKSENTIJEVICH, IVONA;
KASTNER, DANIEL;
AXELROD, FELICIA;
OSTRER, HARRY

Publication type:

Article

Current strategy for genetic analysis of haemophilia A families.

Published in:

Haemophilia, 1996, v. 2, n. 1, p. 11, doi. 10.1111/j.1365-2516.1996.tb00003.x

By:

DARDIK, RIMA;
PERETZ, HAVA;
USHER, SALI;
SELIGSOHN, URI;
MARTINOWITZ, URI

Publication type:

Article

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

Published in:

British Journal of Haematology, 1998, v. 102, n. 2, p. 582, doi. 10.1046/j.1365-2141.1998.00798.x

By:

French, Deborah L.;
CP;;er, Barry S.;
Usher, Saly;
Berkowitz, Richard;
Eng, Christine;
Seligsohn, Uri;
Peretz, Hava

Publication type:

Article