Publications by authors named "Lina Basel-Vanagaite"

86Publications

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.

Gene 2017 Mar 9;606:47-52. Epub 2017 Jan 9.

Department of Cell and Developmental Biology, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2017.01.001DOI Listing
March 2017

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.

Neurogenetics 2016 10 8;17(4):251-257. Epub 2016 Sep 8.

Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, 4920235, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-016-0491-3DOI Listing
October 2016

Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.

Acta Derm Venereol 2016 Nov;96(7):885-887

Department of Dermatology, Tel-Aviv Sourasky Medical Center, Weizman str. 6, Tel-Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2405DOI Listing
November 2016

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.

Mol Genet Metab 2016 Jan 26;117(1):38-41. Epub 2015 Nov 26.

Sackler School of Medicine, Tel Aviv University, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel; The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.11.011DOI Listing
January 2016

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis.

Eur J Paediatr Neurol 2015 Nov 4;19(6):711-5. Epub 2015 Aug 4.

Sackler Faculty of Medicine, Tel-Aviv University, P.O. 39040, Ramat-Aviv, Tel-Aviv, 69978, Israel; Raphael Recanati Genetic Institute, Rabin Medical Center Beilinson Campus and Schneider Children's Medical Center of Israel, Derech Ze'ev Jabotinsky 39, Petah Tikva, 4941492, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Derech Ze'ev Jabotinsky 39, Petah Tikva, 4941492, Israel. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2015.07.013DOI Listing
November 2015

Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

Eur J Paediatr Neurol 2015 Mar 29;19(2):240-2. Epub 2014 Nov 29.

Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel; Felsenstein Medical Research Center, Petach Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.11.004DOI Listing
March 2015

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.

J Clin Endocrinol Metab 2014 Oct 25;99(10):E2129-32. Epub 2014 Jul 25.

The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes (L.d.V.), Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine (L.d.V., P.S.-Y., I.L., L.B.-V.), Tel Aviv University, Tel Aviv, Israel; Molecular Medicine Laboratory (D.M.B., S.T.), Rambam Health Care Campus, Haifa, Israel; Raphael Recanati Genetic Institute (D.M.B., L.B.-V.), Rabin Medical Center, Petach Tikva, Israel; Felsenstein Medical Research Center (P.S.-Y., I.L.), Petach Tikva, Israel; and Pediatric Genetics (L.B.-V.), Schneider Children's Medical Center of Israel, Petach Tikva; Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-1268DOI Listing
October 2014

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.

Eur J Paediatr Neurol 2014 Nov 5;18(6):801-5. Epub 2014 Jul 5.

Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva 49202, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.06.007DOI Listing
November 2014

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Epilepsy Res 2014 May 19;108(4):811-5. Epub 2014 Feb 19.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2014.02.009DOI Listing
May 2014

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus.

J Child Neurol 2014 Feb 20;29(2):221-6. Epub 2013 Nov 20.

1Department of Pediatric and Adolescent Neurology, Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073813509016DOI Listing
February 2014

Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.

Mol Vis 2013 20;19:1565-71. Epub 2013 Jul 20.

The Krieger Eye Research Laboratory, Felsenstein Medical Research Center, Schneider Children's Medical Center, Beilinson Campus, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718492PMC
September 2013

Severe hypertriglyceridemia in an infant of Arab descent.

Isr Med Assoc J 2013 Jan;15(1):53-4

Recanati Genetics Institute, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

View Article

Download full-text PDF

Source
January 2013

Genotype-phenotype correlation in 22q11.2 deletion syndrome.

BMC Med Genet 2012 Dec 17;13:122. Epub 2012 Dec 17.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-13-122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548696PMC
December 2012

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

Pediatr Neurol 2012 Jun;46(6):363-8

Department of Pediatric Neurology and Child Development, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2012.03.014DOI Listing
June 2012

Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment.

Am J Med Genet B Neuropsychiatr Genet 2012 Jan 3;159B(1):13-20. Epub 2011 Nov 3.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.31247DOI Listing
January 2012

New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

Pediatr Dermatol 2012 Jan-Feb;29(1):89-95. Epub 2011 Oct 13.

Schneider Children's Medical Center of Israel and Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1525-1470.2011.01403.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131925PMC
May 2012

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

Am J Med Genet A 2011 Aug 8;155A(8):1959-63. Epub 2011 Jul 8.

Pediatrics A, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34121DOI Listing
August 2011

Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: a new genetic syndrome?

Am J Med Genet A 2011 May 4;155A(5):1060-5. Epub 2011 Apr 4.

Neurogenetic Clinic and Child Neurology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33978DOI Listing
May 2011

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.

J Child Neurol 2011 Jan;26(1):113-6

Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073810377658DOI Listing
January 2011

Familial hydrocephalus with normal cognition and distinctive radiological features.

Am J Med Genet A 2010 Nov;152A(11):2743-8

Schneider Children's Medical Center of Israel, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33688DOI Listing
November 2010

A comparative study of hearing loss in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes.

J Pediatr 2011 Feb 16;158(2):301-6. Epub 2010 Sep 16.

Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00223476100065
Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2010.07.056DOI Listing
February 2011

Clinical and brain imaging heterogeneity of severe microcephaly.

Pediatr Neurol 2010 Jul;43(1):7-16

Schneider Children's Medical Center of Israel, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2010.02.015DOI Listing
July 2010

Acute lymphoblastic leukemia in Weaver syndrome.

Am J Med Genet A 2010 Feb;152A(2):383-6

Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33244DOI Listing
February 2010

Fetal alcohol spectrum disorder in Israel.

Isr Med Assoc J 2009 Oct;11(10):619-22

Child Development and Rehabilitation Institute, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
October 2009

Keppen-Lubinsky syndrome: Expanding the phenotype.

Am J Med Genet A 2009 Aug;149A(8):1827-9

Schneider Children's Medical Center of Israel, Raphael Recanati Genetics Institute, Beilinson Hospital, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32975DOI Listing
August 2009

Isolated familial posterior earlobe indentations.

Am J Med Genet A 2009 Feb;149A(4):800-1

Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32746DOI Listing
February 2009

Clinical approaches to genetic mental retardation.

Isr Med Assoc J 2008 Nov;10(11):821-6

Schneider Children's Medical Center, Rabin Medical Center (Beilinson Campus), Petah Tikva, Israel.

View Article

Download full-text PDF

Source
November 2008

Autosomal dominant isolated question mark ear.

Am J Med Genet A 2008 Sep;146A(17):2280-3

Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32452DOI Listing
September 2008

Psychiatric morbidity with focus on obsessive-compulsive disorder in an Israeli cohort of adolescents with mild to moderate mental retardation.

J Neural Transm (Vienna) 2008 Jun 20;115(6):929-36. Epub 2008 Mar 20.

The Behavioral Neurogenetics Center, Feinberg Department of Child Psychiatry, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00702-008-0037-4
Publisher Site
http://dx.doi.org/10.1007/s00702-008-0037-4DOI Listing
June 2008

Yunis-Varon syndrome: further delineation of the phenotype.

Am J Med Genet A 2008 Feb;146A(4):532-7

Department of Medical Genetics, Schneider Children's Medical Center of Israel and Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32135DOI Listing
February 2008

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome.

Am J Med Genet A 2007 Aug;143A(15):1687-91

Department of Medical Genetics, Schneider Children's Medical Center of Israel and Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31810
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31810DOI Listing
August 2007

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

Eur J Hum Genet 2007 Feb 6;15(2):250-3. Epub 2006 Dec 6.

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201750DOI Listing
February 2007

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.

Eur J Hum Genet 2007 Feb 8;15(2):242-5. Epub 2006 Nov 8.

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201733DOI Listing
February 2007

Amniotic trisomy 11 mosaicism--is it a benign finding?

Prenat Diagn 2006 Sep;26(9):778-81

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.1501
Publisher Site
http://dx.doi.org/10.1002/pd.1501DOI Listing
September 2006

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.

Ann Neurol 2006 Aug;60(2):214-22

Department of Medical Genetics, Schneider Children's Medical Center of Israel and Rabin Medical Center, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.20902DOI Listing
August 2006

Familial cognitive impairment with ataxia with oculomotor apraxia.

J Child Neurol 2005 Jun;20(6):523-5

Neurogenetic Clinic, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/088307380502000610
Publisher Site
http://dx.doi.org/10.1177/088307380502000610DOI Listing
June 2005

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.

Brain Dev 2004 Aug;26(5):326-34

Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, HIM 816, 4 Blackfan Circle, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2003.09.004DOI Listing
August 2004

G protein-coupled receptor-dependent development of human frontal cortex.

Science 2004 Mar;303(5666):2033-6

Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1092780DOI Listing
March 2004

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Hum Mutat 2003 Jun;21(6):615-21

Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Antwerpen, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.10217DOI Listing
June 2003

New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death.

Am J Med Genet A 2003 Jun;119A(2):200-6

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20133DOI Listing
June 2003

Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?

Am J Med Genet 2002 Nov;113(1):78-81

Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.10723
Publisher Site
http://dx.doi.org/10.1002/ajmg.10723DOI Listing
November 2002

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.

Am J Hum Genet 2002 Apr 13;70(4):1028-33. Epub 2002 Feb 13.

Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/339552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379097PMC
April 2002