Borochowitz, Zvi U. : rechercher sur Z-Library

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1

Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

Adel Shalata, Haya Furman, Vardit Adir, Noam Adir, Yasir Hujeirat, Stavit A. Shalev, Zvi U. Borochowitz

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 394 KB

english, 2010

2

Unconventional Energy Resources: 2013 Review

Simon, Amos J., Lev, Atar, Jeison, Marta, Borochowitz, Zvi U., Korn, David, Lerenthal, Yaniv, Somech, Raz

Journal:

Natural Resources Research

Année:

2014

Langue:

english

Fichier:

PDF, 14.41 MB

english, 2014

3

Interstitial deletion (6)q13q15

Gershoni-Baruch, Ruth, Mandel, Hanna, Bar El, Hanna, Bar-Nizan, Noga, Borochowitz, Zvi, Dar, Hanna

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 310 KB

english, 1996

4

Inherited inverted duplication of X chromosome in a male: Report of a patient and review of the literature

Shapira, Moshe, Dar, Hanna, Bar-El, Hanna, Bar-Nitzan, Noga, Even, Lea, Borochowitz, Zvi

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 235 KB

english, 1997

5

Autosomal-recessive omodysplasia: Prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones

Borochowitz, Zvi, Sabo, Edmund, Misselevitch, Ines, Boss, Jochanan H.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 278 KB

english, 1998

6

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): Further delineation

Shalev, Stavit A., Shalev, Eliezer, Reich, Dan, Borochowitz, Zvi U.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 255 KB

english, 1999

7

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Mia Horowitz, Metsada Pasmanik-Chor, Zvi Borochowitz, Tzipora Falik-Zaccai, Keren Heldmann, Rivka Carmi, Ruth Parvari, Hannah Beit-Or, Boleslav Goldman, Lea Peleg, Ephrat Levy-Lahad, Paul Renbaum, Sea

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 302 KB

english, 1998

8

Achondrogenesis II–hypochondrogenesis: Variability versus heterogeneity

Zvi Borochowitz, Asher Ornoy, Ralph Lachman, Dr. David L. Rimoin, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 1.56 MB

english, 1986

9

Familial congenital micromelic dysplasia with dislocation of radius and distinct face: A new skeletal dysplasia syndrome

Zvi Borochowitz, Mila Barak, Silvia Hershkowitz

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 532 KB

english, 1991

10

Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: Humero-metacarpal (HM) type: Variation or heterogeneity?

Dr. Zvi Borochowitz

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 526 KB

english, 1991

11

Sleep apnea in fragile X syndrome

Emanuel Tirosh, Zvi Borochowitz

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 326 KB

english, 1992

12

Neu-Laxova syndrome: Prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations

Israel Shapiro, Dr. Zvi Borochowitz, Shimon Degani, Hanna Dar, Izu Ibschitz, Mordechai Sharf

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 474 KB

english, 1992

13

New multiple congenital anomalies: Mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement

Zvi Borochowitz, Lorenzo Pavone, Galia Mazor, Renata Rizzo, Hanna Dar

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 933 KB

english, 1992

14

Reply to Drs. Sauvegrain and Maroteaux

Dr. Zvi Borochowitz, Mila Barak, S. Hershkowitz

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 59 KB

english, 1992

15

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology

Dr. Zvi Borochowitz, Leonard O. Langer Jr., Helen E. Gruber, Ralph Lachman, Mariassa Bat-Miriam Katznelson, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 3.22 MB

english, 1993

16

Kohlschütter-Tönz syndrome: Epilepsy, dementia, and amelogenesis imperfecta

Joël Zlotogora, Anna Fuks, Zvi Borochowitz, Yoram Tal

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 196 KB

english, 1993

17

Facio-cutaneous-skeletal syndrome: New nosological entity or Costello syndrome?

Dr. Zvi Borochowitz, L. Pavone, G. Mazor, R. Rizzo, H. Dar

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 117 KB

english, 1993

18

Deletion of the short arm of chromosome 10 (10p13): Report of a patient and review

Moshe Shapira, Zvi Borochowitz, Hanna Bar-El, Hanna Dar, Amos Etzioni, Avraham Lorber

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 508 KB

english, 1994

19

Nosology of omodysplasia

Zvi Borochowitz, Mila Barak, Silvia Hershkowitz

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 80 KB

english, 1995

20

Upper limb malformations in chromosome 22qll deletions

Stavit A. Shalev, Dr. Hanna Dar, Hanna Barel, Zvi Borochowitz

Journal:

American Journal of Medical Genetics Part A

Année:

1996

Langue:

english

Fichier:

PDF, 82 KB

english, 1996

21

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

Tzipora C. Falik-Borenstein, Stuart A. Holmes, Zvi Borochowitz, Abi Levin, A. Rosenmann, Richard A. Spritz

Journal:

Prenatal Diagnosis

Année:

1995

Langue:

english

Fichier:

PDF, 790 KB

english, 1995

22

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

Walder, Roxanne Y., Landau, Daniel, Meyer, Peter, Shalev, Hanna, Tsolia, Maria, Borochowitz, Zvi, Boettger, Melanie Barbara, Beck, Gretel E., Englehardt, Richard K., Carmi, Rivka

Journal:

Nature Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2002

23

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer, Jacob Sosna, Judith Melki, David H. Zangen, Sarah F. Smithson, Zvi Borochowitz, Ruth Belostotsky, Annick Raas-Rothschild

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 690 KB

english, 2009

24

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxová, Karl-Henrik Gustavson, Zvi U. Borochowitz, A. Micheil Innes, Sheila Unger, Jacque

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2009

25

Absence of association of inherited thrombophilia with unexplained third trimester intrauterine fetal death

Ron Gonen, Noa Lavi, Dina Attias, Liliana Schliamser, Zvi Borochowitz, Elias Toubi

Journal:

American Journal of Obstetrics and Gynecology

Année:

2004

Langue:

english

Fichier:

PDF, 57 KB

english, 2004

26

Absence of association of inherited thrombophilia with unexplained third-trimester intrauterine fetal death

Ron Gonen, Noa Lavi, Dina Attias, Liliana Schliamser, Zvi Borochowitz, Elias Toubi, Gonen Ohel

Journal:

American Journal of Obstetrics and Gynecology

Année:

2005

Langue:

english

Fichier:

PDF, 138 KB

english, 2005

27

Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance

Michael Jaffe, Jehuda Shapira, Zvi Borochowitz

Journal:

Clinical Genetics

Année:

1988

Langue:

english

Fichier:

PDF, 409 KB

english, 1988

28

Familial recurrent dislocation of patella with autosomal dominant mode of inheritance

Zvi Borochowitz, Michael Soudry, David G. Mendes

Journal:

Clinical Genetics

Année:

1988

Langue:

english

Fichier:

PDF, 213 KB

english, 1988

29

Familial Caffey's disease and late recurrence in a child

Zvi Borochowitz, David Gozal, Ines Misselevitch, Jamal Aunallah, Johanan H. Boss

Journal:

Clinical Genetics

Année:

1991

Langue:

english

Fichier:

PDF, 674 KB

english, 1991

30

Down syndrome prevention program in a population with an older maternal age

Mordechai Shohat, Cyril Legum, Yitzhak Romem, ZVI Borochowitz, Gideon Bach, Boleslaw Goldman

Journal:

Obstetrics & Gynecology

Année:

1995

Langue:

english

Fichier:

PDF, 517 KB

english, 1995

31

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi U. Borochowitz, Marina Okopnik, Carlos Knopf, Margarita Indelman, Arie Drugan, Dov Tiosano, Ruth Gershoni-Baruch, Mordechai Choder, Eli Sprecher

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2008

32

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families

Stavit A. Shalev, Ronen Spiegel, Zvi U. Borochowitz

Journal:

European Journal of Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2012

33

Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations

William A. Paznekas, Michael L. Cunningham, Timothy D. Howard, Bruce R. Korf, Mark H. Lipson, Art W. Grix, Murray Feingold, Rosalie Goldberg, Zvi Borochowitz, Kirk Aleck, John Mulliken, Mingfei Yin, E

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 598 KB

english, 1998

34

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida-Yamamoto, Dana Fuchs-Telem, Li Qiaoli, Ksenya Cohen-Katsenelson, Ronen Spiegel, Janna Nousbeck, Shirli Israeli, Zvi-Uri Borochowitz, Gilly Padalon

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1008 KB

english, 2012

35

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

Dagan, Efrat, Cohen, Yoram, Mory, Adi, Adir, Vardit, Borochowitz, Zvi, Raanani, Hila, Kurolap, Alina, Melikhan-Revzin, Svetlana, Meirow, Dror, Gershoni-Baruch, Ruth

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 171 KB

english, 2014

36

Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient

Simon, Amos J., Lev, Atar, Jeison, Marta, Borochowitz, Zvi U., Korn, David, Lerenthal, Yaniv, Somech, Raz

Journal:

Journal of Clinical Immunology

Année:

2014

Langue:

english

Fichier:

PDF, 583 KB

english, 2014

37

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, St

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 310 KB

english, 2013

38

Coronary Heart Disease among Circassians in Israel Is Not Associated with Mutations in Thrombophilia Genes

TZIPORA C. FALIK-ZACCAI, YAFA HARON, DANNY EILAT, BAKKY HARASH, EKATERINA GOLINKER, OSAMAH HUSSEIN, RIVKA EISIKOVITS, ZVI BOROCHOWITZ and SHAI LINN

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2003

39

Detection of X Chromosome Aneuploidy Using Southern Blot Analysis During Routine Population-Based Screening for Fragile X Syndrome

Adir, Vardit, Shahak, Elena, Dar, Hanna, Borochowitz, Zvi U.

Journal:

Genetic Testing

Année:

2003

Langue:

english

Fichier:

PDF, 110 KB

english, 2003

40

Language in boys with fragile X syndrome

LEVY, YONATA, GOTTESMAN, RIKI, BOROCHOWITZ, ZVI, FRYDMAN, MOSHE, SAGI, MICHAL

Journal:

Journal of Child Language

Année:

2006

Langue:

english

Fichier:

PDF, 290 KB

english, 2006

41

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

Dagan, Efrat, Cohen, Yoram, Mory, Adi, Adir, Vardit, Borochowitz, Zvi, Raanani, Hila, Kurolap, Alina, Melikhan-Revzin, Svetlana, Meirow, Dror, Gershoni-Baruch, Ruth

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 66 KB

english, 2014

42

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel

Reish, Orit, Borochowitz, Zvi U, Adir, Vardit, Shohat, Mordechai, Karpati, Mazal, Shtorch, Atalia, Orr-Urtreger, Avi, Yaron, Yuval, Shalev, Stavit, Fares, Fuad, Gershoni-Baruch, Ruth, Falik-Zaccai, Tz

Journal:

Genetics in Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 113 KB

english, 2009

43

Patients’ Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients’ Sociodemographic Background and Counseling Experience

Gilbar, Roy, Shalev, Stavit, Spiegel, Ronen, Pras, Elon, Berkenstadt, Michal, Sagi, Michal, Ben-Yehuda, Adi, Mor, Pnina, Perry, Shlomit, Zaccai, Tzipora Falik, Borochowitz, Zvi, Barnoy, Sivia

Journal:

Journal of Genetic Counseling

Année:

2016

Langue:

english

Fichier:

PDF, 367 KB

english, 2016

44

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel—update

Reish, Orit, Shohat, Mordechai, Magal, Nurit, Pesso, Rachel, Borochowitz, Zvi U, Adir, Vardit, Karpati, Mazal, Shimshoni, Daphne Chapman

Journal:

Genetics in Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 83 KB

english, 2009

45

Attitudes of Israeli Muslims at Risk of Genetic Disorders towards Pregnancy Termination

Neter, Efrat, Wolowelsky, Yael, Borochowitz, Zvi U.

Journal:

Community Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 76 KB

english, 2005

46

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing

Sharony, Reuven, Borochowitz, Zvi, Cohen, Lior, Storch, Atalia, Rosenfeld, Revital, Modai, Shira, Reinstein, Eyal

Journal:

Clinical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2017

47

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gin

Journal:

Nature Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 11.39 MB

english, 2019

48

Case 2: Developmental delay, especially language, in a toddler

Shapira, Moshe, Borochowitz, Zvi U

Journal:

Paediatrics & child health

Année:

2008

Langue:

english

Fichier:

PDF, 494 KB

english, 2008