Annick Raas-Rothschild

Annick Raas-Rothschild

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Annick Raas-Rothschild

Annick Raas-Rothschild

Publications by authors named "Annick Raas-Rothschild"

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71Publications

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PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.

Eur J Med Genet 2019 Mar 10;62(3):167-171. Epub 2018 Jul 10.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.004DOI Listing
March 2019

Phenotype variability in Hajdu-Cheney syndrome.

Eur J Med Genet 2019 Jan 23;62(1):35-38. Epub 2018 Apr 23.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.015DOI Listing
January 2019

Nablus syndrome: Easy to diagnose yet difficult to solve.

Am J Med Genet C Semin Med Genet 2018 12;178(4):447-457

Department of Genetics, CHEO, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.c.31660DOI Listing
December 2018

LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.

J Ultrasound Med 2018 Jul 13;37(7):1827-1833. Epub 2018 Jan 13.

Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1002/jum.14520DOI Listing
July 2018

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.

Invest Ophthalmol Vis Sci 2018 02;59(2):1095-1104

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1167/iovs.17-22817DOI Listing
February 2018

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.

J Bone Miner Res 2017 Dec 6;32(12):2394-2404. Epub 2017 Sep 6.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/jbmr.3233DOI Listing
December 2017

Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?

Eur J Med Genet 2017 Jun 6;60(6):340-344. Epub 2017 Apr 6.

Institute of Rare Diseases & Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel; The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.04.005DOI Listing
June 2017

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Eur J Hum Genet 2016 12 7;24(12):1792-1796. Epub 2016 Sep 7.

Departamento de Bioquımicay Biologıa Molecular, Facultad de Medicina, Instituto Universitario de Oncologıa-IUOPA, Universidad de Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1038/ejhg.2016.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117915PMC
December 2016

Combined immunodeficiency in a patient with mosaic monosomy 21.

Immunol Res 2016 08;64(4):841-7

Pediatric Department A and the Immunology Service, "Edmond and Lily Safra" Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s12026-016-8803-0DOI Listing
August 2016

The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing.

Genet Med 2016 Apr 16;18(4):372-7. Epub 2015 Jul 16.

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

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http://dx.doi.org/10.1038/gim.2015.96DOI Listing
April 2016

Extensive Mongolian Spots and Lysosomal Storage Diseases.

J Pediatr 2016 Mar 15;170:333-e1. Epub 2015 Dec 15.

Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel; Institute of Rare Diseases, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1016/j.jpeds.2015.11.009DOI Listing
March 2016

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

Mol Genet Metab 2011 Dec 24;104(4):517-20. Epub 2011 Sep 24.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.020DOI Listing
December 2011

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

Pediatr Radiol 2011 Oct 5;41(10):1298-307. Epub 2011 Aug 5.

Department of Radiology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1007/s00247-011-2123-2DOI Listing
October 2011

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.

Mov Disord 2011 Aug 26;26(9):1593-604. Epub 2011 May 26.

Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1002/mds.23774DOI Listing
August 2011

Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).

Am J Med Genet A 2011 Aug 7;155A(8):1825-32. Epub 2011 Jul 7.

Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.33952
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http://dx.doi.org/10.1002/ajmg.a.33952DOI Listing
August 2011

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

Am J Hum Genet 2011 Jun 27;88(6):788-795. Epub 2011 May 27.

INSERM U781, Fondation IMAGINE, Département de Génétique and Département de Radiologie Pédiatrique, Université Paris Descartes, Hôpital Necker-Enfants Malades, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2011.04.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113253PMC
June 2011

Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.

J Inherit Metab Dis 2010 Aug 15;33(4):429-36. Epub 2010 Jun 15.

Department of Psychology, Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10545-010-9133-3DOI Listing
August 2010

Fabry disease and G6PD in three family members with priapism: is the nitric oxide pathway to blame?

J Sex Med 2010 Apr 19;7(4 Pt 1):1588-91. Epub 2010 Jan 19.

Department of Nephrology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1111/j.1743-6109.2009.01665.xDOI Listing
April 2010

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Eur J Med Genet 2009 Mar-Jun;52(2-3):140-4. Epub 2009 Mar 26.

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900026
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http://dx.doi.org/10.1016/j.ejmg.2009.03.011DOI Listing
September 2009

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Am J Hum Genet 2009 Jan 24;84(1):80-4. Epub 2008 Dec 24.

Department of Human Genetics, Hadassah Hebrew University Hospital, POB 12000, Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668047PMC
January 2009

P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.

Eur J Med Genet 2008 Jul-Aug;51(4):351-7. Epub 2008 Mar 20.

Department of Otolaryngology/Head and Neck Surgery, Hadassah Hebrew University Medical Center, 91120 Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ejmg.2008.02.008DOI Listing
October 2008

Pediatrics: implementing the promise of early intervention for Fabry disease.

Clin Ther 2007 ;29 Suppl A:S6

Department of Human Genetics, Hadassah-Hebrew University Hospital, Jerusalem 91120.

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http://dx.doi.org/10.1016/s0149-2918(07)80116-0DOI Listing
June 2008

Fabry disease prenatal diagnosis.

Prenat Diagn 2008 Mar;28(3):268

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http://doi.wiley.com/10.1002/pd.1942
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http://dx.doi.org/10.1002/pd.1942DOI Listing
March 2008

Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.

J Am Acad Dermatol 2007 Sep 8;57(3):407-12. Epub 2007 Apr 8.

Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.jaad.2007.01.037DOI Listing
September 2007

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Mol Genet Metab 2006 Aug 21;88(4):359-63. Epub 2006 Apr 21.

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2006.03.003DOI Listing
August 2006

Dental management of a child with trisomy 9 mosaicism: a case report.

Pediatr Dent 2006 May-Jun;28(3):265-8

Department of Pediatric Dentistry, School of Dental Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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August 2006

The heart of children with steroid-resistant nephrotic syndrome: is it all podocin?

J Am Soc Nephrol 2006 Jan 16;17(1):227-31. Epub 2005 Nov 16.

Division of Pediatric Nephrology, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem, Israel 91031.

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http://dx.doi.org/10.1681/ASN.2005060653DOI Listing
January 2006

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

Nat Med 2005 Oct 2;11(10):1109-12. Epub 2005 Oct 2.

Department of Biochemistry, Children's Hospital, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany.

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http://www.nature.com/articles/nm1305
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http://dx.doi.org/10.1038/nm1305DOI Listing
October 2005

Glycosphingolipidoses: beyond the enzymatic defect.

Glycoconj J 2004 ;21(6):295-304

Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel.

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http://dx.doi.org/10.1023/B:GLYC.0000046272.38480.efDOI Listing
May 2005

A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.

J Clin Endocrinol Metab 2004 Jul;89(7):3595-600

Endocrine Unit, Massachusetts General Hospital for Children, MGH/Harvard Medical School, Wellman 5, Boston, MA 02114, USA.

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http://dx.doi.org/10.1210/jc.2004-0036DOI Listing
July 2004

Absent ductus venosus in the fetus: review of the literature and first report of direct umbilical venous drainage to the coronary sinus.

Fetal Diagn Ther 2003 Jul-Aug;18(4):247-51

Pediatric Cardiology Unit, Hadassah University Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1159/000070804DOI Listing
February 2004

Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome.

Am J Med Genet A 2003 Aug;121A(2):156-8

Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.20066DOI Listing
August 2003

Early peripheral nervous system manifestations of infantile Krabbe disease.

Pediatr Neurol 2003 Feb;28(2):115-8

Neurological Service, Bikur Cholim Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1016/s0887-8994(02)00489-7DOI Listing
February 2003

Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.

Am J Med Genet 2002 Dec;113(3):275-8

Neurological Service, Bikur Cholim Hospital, Strauss St. 5, Jerusalem 91004, Israel.

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http://dx.doi.org/10.1002/ajmg.10725DOI Listing
December 2002

Genetic testing for hearing loss: different motivations for the same outcome.

Am J Med Genet 2002 Nov;113(2):137-43

Department of Human Genetics and Molecular Medicine, Sackler School Medicine, Tel-Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1002/ajmg.10676DOI Listing
November 2002

Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.

Am J Med Genet 2002 Sep;112(1):75-8

Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.10652DOI Listing
September 2002

Hypocarnitinemia in lysinuric protein intolerance.

Mol Genet Metab 2002 May;76(1):81-3

Department of Clinical Biochemistry, Hadassah University Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1016/s1096-7192(02)00019-7DOI Listing
May 2002

Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children.

J Am Soc Nephrol 2002 Feb;13(2):400-5

Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.

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February 2002