Works by BEN-NERIAH, ZIVA

Results: 20

WAGR Syndrome in a Baby -- The Result of 6-MP Treatment in a Father Affected by Crohn's Disease?

Published in:

2001

By:

Ben-Neriah, Ziva;
Ackerman, Zvi

Publication type:

Letter

An Infant with a Diagnostically Challenging Hepatic Teratoma, Hypofibrinogenemia, and Adrenal Neuroblastoma: Case Report.

Published in:

Pediatric & Developmental Pathology, 2015, v. 18, n. 3, p. 251, doi. 10.2350/13-08-1361-CR.1

By:

FRIED, IRIS;
ROM-GROSS, EITAN;
FINEGOLD, MILTON;
SIMANOVSKY, NATALIA;
REVEL-VILK, SHOSHANA;
BEN-NERIAH, ZIVA;
WEINTRAUB, MICHAEL;
PAPPO, ORIT;
MEIR, KAREN

Publication type:

Article

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.

Published in:

Journal of Human Genetics, 2005, v. 50, n. 5, p. 230, doi. 10.1007/s10038-005-0243-y

By:

Boneh, Avihu;
Korman, Stanley H.;
Sato, Kenichi;
Kanno, Junko;
Matsubara, Yoichi;
Lerer, Israela;
Ben-Neriah, Ziva;
Kure, Shigeo

Publication type:

Article

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

Published in:

2015

By:

Weinberg-Shukron, Ariella;
Renbaum, Paul;
Kalifa, Rachel;
Zeligson, Sharon;
Ben-Neriah, Ziva;
Dreifuss, Amatzia;
Abu-Rayyan, Amal;
Maatuk, Noa;
Fardian, Nilly;
Rekler, Dina;
Kanaan, Moien;
Samson, Abraham O.;
Levy-Lahad, Ephrat;
Gerlitz, Offer;
Zangen, David

Publication type:

journal article

Duodenal web in the syndrome of osteopathia striata with cranial sclerosis.

Published in:

Clinical Genetics, 1996, v. 49, n. 6, p. 329, doi. 10.1111/j.1399-0004.1996.tb03802.x

By:

Bar-Oz, Benjamin;
Mogle, Paul;
Ben-Neriah, Ziva;
Sheffer, Ruth;
Arad, Ilan

Publication type:

Article

Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.

Published in:

2007

By:

Abdulhadi-Atwan, Maha;
Jean, Amy;
Chung, Wendy K.;
Meir, Karen;
Ben Neriah, Ziva;
Stratigopoulos, George;
Oberfield, Sharon E;
Fennoy, Ilene;
Hirsch, Harry J;
Bhangoo, Amrit;
Ten, Svetlana;
Lerer, Israela;
Zangen, David H

Publication type:

journal article

Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.

Published in:

Prenatal Diagnosis, 2004, v. 24, n. 11, p. 857, doi. 10.1002/pd.1000

By:

Korman, Stanley H.;
Gutman, Alisa;
Stemmer, Edia;
Kay, Barrie S.;
Ben-Neriah, Ziva;
Zeigler, Marsha

Publication type:

Article

Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.

Published in:

Prenatal Diagnosis, 2002, v. 22, n. 8, p. 649, doi. 10.1002/pd.370

By:

Silverstein, Shira;
Lerer, Israela;
Sagi, Michal;
Frumkin, Ayala;
Ben-Neriah, Ziva;
Abeliovich, Dvorah

Publication type:

Article

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Published in:

Human Mutation, 2001, v. 18, n. 5, p. 460, doi. 10.1002/humu.1222

By:

Lerer, Israela;
Sagi, Michal;
Ben-Neriah, Ziva;
Wang, Tieling;
Levi, Haya;
Abeliovich, Dvorah

Publication type:

Article

Physiology: The regulatory role of tri-iodothyronine on the production of α-fetoprotein and albumin by mouse fetal liver cells*.

Published in:

Human Reproduction, 1993, v. 8, n. 10, p. 1576

By:

Anteby, Eyal;
Shpan, Perach;
Dushnik, Matat;
Zvang, Adi;
Zer, Tamar;
Ben-Neriah, Ziva;
Yagel, Simcha

Publication type:

Article

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 68, doi. 10.1007/s00439-003-1012-7

By:

Cai, Juanliang;
Goodman, Barbara K.;
Patel, Ankita S.;
Mulliken, John B.;
Van Maldergem, Lionel;
Hoganson, George E.;
Paznekas, William A.;
Ben-Neriah, Ziva;
Sheffer, Ruth;
Cunningham, Michael L.;
Daentl, Donna L.;
Jabs, Ethylin Wang

Publication type:

Article

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2801, doi. 10.1002/ajmg.a.34240

By:

Ben-Neriah, Ziva;
Michaelson-Cohen, Rachel;
Inbar-Feigenberg, Michal;
Nadjari, Michael;
Zeligson, Sharon;
Shaag, Avraham;
Zenvirt, Shamir;
Elpeleg, Orly;
Levy-Lahad, Ephrat

Publication type:

Article

Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 577, doi. 10.1002/ajmg.a.33104

By:

Horev, Liran;
Lees, Melissa M.;
Anteby, Irene;
Gomori, John M.;
Gunny, Roxana;
Ben-Neriah, Ziva

Publication type:

Article

TRISOMY 2: CONFINED PLACENTAL MOSAICISM IN A FETUS WITH INTRAUTERINE GROWTH RETARDATION.

Published in:

Prenatal Diagnosis, 1997, v. 17, n. 2, p. 180, doi. 10.1002/(SICI)1097-0223(199702)17:2<180::AID-PD31>3.0.CO;2-#

By:

ARIEL, ILANA;
LERER, ISRAELA;
YAGEL, SIMCHA;
COHEN, RACHEL;
BEN-NERIAH, ZIVA;
ABELIOVICH, DVORAH

Publication type:

Article

Amniocentesis rate and the detection of down syndrome and other chromosomal anomalies in Israel.

Published in:

Prenatal Diagnosis, 1995, v. 15, n. 10, p. 967, doi. 10.1002/pd.1970151012

By:

Shohat, Mordechai;
Akstein, Edna;
Davidov, Bella;
Barkai, Gad;
Legum, Cyril;
David, Miriam;
Dar, Hanna;
Romem, Yitzhak;
Amiel, Aliza;
Cohen, Hana;
Bach, Gideon;
Ben-Neriah, Ziva;
Sheffer, Ruth N.;
Appelman, Zvi;
Chemke, Juan;
Zadka, Pnina;
Zer, Tamy;
Goldman, Boleslaw

Publication type:

Article

Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure.

Published in:

PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033412

By:

Caburet, Sandrine;
Zavadakova, Petra;
Ben-Neriah, Ziva;
Bouhali, Kamal;
Dipietromaria, Auré lie;
Charon, Cé line;
Besse, Cé line;
Laissue, Paul;
Chalifa-Caspi, Vered;
Christin-Maitre, Sophie;
Vaiman, Daniel;
Levi, Giovanni;
Veitia, Reiner A.;
Fellous, Marc

Publication type:

Article

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 836, doi. 10.1002/humu.22822

By:

Lazar, Csilla H.;
Kimchi, Adva;
Namburi, Prasanthi;
Mutsuddi, Mousumi;
Zelinger, Lina;
Beryozkin, Avigail;
Ben‐Simhon, Shiran;
Obolensky, Alexey;
Ben‐Neriah, Ziva;
Argov, Zohar;
Pikarsky, Eli;
Fellig, Yakov;
Marks‐Ohana, Devorah;
Ratnapriya, Rinki;
Banin, Eyal;
Sharon, Dror;
Swaroop, Anand

Publication type:

Article

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 1, doi. 10.1093/hmg/dds371

By:

Schwarze, Ulrike;
Cundy, Tim;
Pyott, Shawna M.;
Christiansen, Helena E.;
Hegde, Madhuri R.;
Bank, Ruud A.;
Pals, Gerard;
Ankala, Arunkanth;
Conneely, Karen;
Seaver, Laurie;
Yandow, Suzanne M.;
Raney, Ellen;
Babovic-Vuksanovic, Dusica;
Stoler, Joan;
Ben-Neriah, Ziva;
Segel, Reeval;
Lieberman, Sari;
Siderius, Liesbeth;
Al-Aqeel, Aida;
Hannibal, Mark

Publication type:

Article

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3462, doi. 10.1093/hmg/ddp290

By:

Attali, Ruben;
Warwar, Nasim;
Israel, Ariel;
Gurt, Irina;
McNally, Elizabeth;
Puckelwartz, Megan;
Glick, Benjamin;
Nevo, Yoram;
Ben-Neriah, Ziva;
Melki, Judith

Publication type:

Article

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08493-7

By:

Fichtman, Boris;
Zagairy, Fadia;
Biran, Nitzan;
Barsheshet, Yiftah;
Chervinsky, Elena;
Ben Neriah, Ziva;
Shaag, Avraham;
Assa, Michael;
Elpeleg, Orly;
Harel, Amnon;
Spiegel, Ronen

Publication type:

Article