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Pediatric Research (4)
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Showing 1–11 of 11 results

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1 April 1999
Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS
Pediatric Research 45 , 136–136

Rights & permissionsfor article Breakpoint Identification, Detection and Frequency of the 65-kb Deletion in the Cystinosis Gene, CTNS . Opens in a new window.
Research | 17 February 2016
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations
- Joshi Stephen
- , Thierry Vilboux
- , Yael Haberman
- , Hadass Pri-Chen
- , Ben Pode-Shakked
- , Sina Mazaheri
- , Dina Marek-Yagel
- , Ortal Barel
- , Ayelet Di Segni
- , Eran Eyal
- , Goni Hout-Siloni
- , Avishay Lahad
- , Tzippora Shalem
- , Gideon Rechavi
- , May Christine V Malicdan
- , Batia Weiss
- , William A Gahl
- & Yair Anikster
European Journal of Human Genetics 24 , 1268–1273

Rights & permissionsfor article Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations . Opens in a new window.
Research | 23 April 2010
DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients
- Rivka Shapiro
- , Yair Anikster
- , Tal Yardeni
- , Sigal Korem
- , Korina Hartman
- , Raanan Shamir
- , Efrat Broide
- , Arie Levine
- , Yoram Bujanover
- & Dani Bercovich
Journal of Human Genetics 55 , 308–313

Rights & permissionsfor article DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients . Opens in a new window.
Research | 16 July 2001
Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico
- Yair Anikster
- , Marjan Huizing
- , James White
- , Yuriy O. Shevchenko
- , Diana L. Fitzpatrick
- , Jeffrey W. Touchman
- , John G. Compton
- , Sherri J. Bale
- , Richard T. Swank
- , William A. Gahl
- & Jorge R. Toro
Nature Genetics 28 , 376–380

Rights & permissionsfor article Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico . Opens in a new window.
1 April 2008
Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype
- Benjamin Dekel
- , Sally Metsuyanim
- , Nurit Goldstein
- , Naomi Pode-Shakked
- , Yael Kovalski
- , Yoram Cohen
- , Miriam Davidovits
- & Yair Anikster
Pediatric Research 63 , 398–403

Rights & permissionsfor article Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype . Opens in a new window.
Research | 17 July 2011
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
- Meral Gunay-Aygun
- , Tzipora C Falik-Zaccai
- , Thierry Vilboux
- , Yifat Zivony-Elboum
- , Fatma Gumruk
- , Mualla Cetin
- , Morad Khayat
- , Cornelius F Boerkoel
- , Nehama Kfir
- , Yan Huang
- , Dawn Maynard
- , Heidi Dorward
- , Katherine Berger
- , Robert Kleta
- , Yair Anikster
- , Mutlu Arat
- , Andrew S Freiberg
- , Beate E Kehrel
- , Kerstin Jurk
- , Pedro Cruz
- , Jim C Mullikin
- , James G White
- , Marjan Huizing
- & William A Gahl
Nature Genetics 43 , 732–734

Rights & permissionsfor article NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules . Opens in a new window.
Research | 1 May 2008
Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene
- Dani Bercovich
- , Arava Elimelech
- , Joel Zlotogora
- , Sigal Korem
- , Tal Yardeni
- , Nurit Gal
- , Nurit Goldstein
- , Bela Vilensky
- , Roni Segev
- , Smadar Avraham
- , Ron Loewenthal
- , Gerard Schwartz
- & Yair Anikster
Journal of Human Genetics 53 , 407–418

Rights & permissionsfor article Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene . Opens in a new window.
Research | 1 January 2000
Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations
- Yair Anikster
- , Cynthia Lucero
- , Juanru Guo
- , Marjan Huizing
- , Vorasuk Shotelersuk
- , Isa Bernardini
- , Geraldine McDowell
- , Fumino Iwata
- , Muriel I Kaiser-Kupfer
- , Ronald Jaffe
- , Jess Thoene
- , Jerry A Schneider
- & William A Gahl
Pediatric Research 47 , 17–17

Rights & permissionsfor article Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations . Opens in a new window.
Research | 19 June 2019
Noncoding deletions reveal a gene that is critical for intestinal function
- Danit Oz-Levi
- , Tsviya Olender
- , Ifat Bar-Joseph
- , Yiwen Zhu
- , Dina Marek-Yagel
- , Iros Barozzi
- , Marco Osterwalder
- , Anna Alkelai
- , Elizabeth K. Ruzzo
- , Yujun Han
- , Erica S. M. Vos
- , Haike Reznik-Wolf
- , Corina Hartman
- , Raanan Shamir
- , Batia Weiss
- , Rivka Shapiro
- , Ben Pode-Shakked
- , Pavlo Tatarskyy
- , Roni Milgrom
- , Michael Schvimer
- , Iris Barshack
- , Denise M. Imai
- , Devin Coleman-Derr
- , Diane E. Dickel
- , Alex S. Nord
- , Veena Afzal
- , Kelly Lammerts van Bueren
- , Ralston M. Barnes
- , Brian L. Black
- , Christopher N. Mayhew
- , Matthew F. Kuhar
- , Amy Pitstick
- , Mehmet Tekman
- , Horia C. Stanescu
- , James M. Wells
- , Robert Kleta
- , Wouter de Laat
- , David B. Goldstein
- , Elon Pras
- , Axel Visel
- , Doron Lancet
- , Yair Anikster
- & Len A. Pennacchio
Nature 571 , 107–111

Rights & permissionsfor article Noncoding deletions reveal a gene that is critical for intestinal function . Opens in a new window.
15 January 2015 | Open
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
- Xiaolin Zhu
- , Slavé Petrovski
- , Pingxing Xie
- , Elizabeth K. Ruzzo
- , Yi-Fan Lu
- , K. Melodi McSweeney
- , Bruria Ben-Zeev
- , Andreea Nissenkorn
- , Yair Anikster
- , Danit Oz-Levi
- , Ryan S. Dhindsa
- , Yuki Hitomi
- , Kelly Schoch
- , Rebecca C. Spillmann
- , Gali Heimer
- , Dina Marek-Yagel
- , Michal Tzadok
- , Yujun Han
- , Gordon Worley
- , Jennifer Goldstein
- , Yong-Hui Jiang
- , Doron Lancet
- , Elon Pras
- , Vandana Shashi
- , Duncan McHale
- , Anna C. Need
- & David B. Goldstein
Genetics in Medicine 17 , 774–781

Rights & permissionsfor article Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios . Opens in a new window.
Research | 1 February 2002
Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2
- Marjan Huizing
- , Charles D Scher
- , Erin Strovel
- , Diana L Fitzpatrick
- , Lisa M Hartnell
- , Yair Anikster
- & William A Gahl
Pediatric Research 51 , 150–158

Rights & permissionsfor article Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2 . Opens in a new window.

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