Tania Attie-Bitach

Tania Attie-Bitach

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Tania Attie-Bitach

Tania Attie-Bitach

Publications by authors named "Tania Attie-Bitach"

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Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Am J Med Genet A 2019 Apr 14;179(4):639-644. Epub 2019 Feb 14.

Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.61050DOI Listing
April 2019

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

Hum Mol Genet 2019 Mar;28(6):877-887

Institut NeuroMyoGène, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U-1217, Lyon, France.

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/hmg/ddy392DOI Listing
March 2019

Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.

Fetal Pediatr Pathol 2018 Dec 31;37(6):411-417. Epub 2018 Dec 31.

a Unité d'Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP , Paris , France.

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http://dx.doi.org/10.1080/15513815.2018.1520942DOI Listing
December 2018

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

Am J Med Genet A 2018 07 27;176(7):1610-1613. Epub 2018 Apr 27.

Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris (AP-HP), Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38685DOI Listing
July 2018

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Eur J Hum Genet 2018 06 26;26(6):912-918. Epub 2018 Feb 26.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants-Malades, Université Paris Descartes, 149, rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1038/s41431-018-0124-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974246PMC
June 2018

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Hum Mol Genet 2018 May 16. Epub 2018 May 16.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.

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http://dx.doi.org/10.1093/hmg/ddy179DOI Listing
May 2018

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.

Birth Defects Res 2018 04 8;110(6):538-542. Epub 2018 Jan 8.

Unité d'Embryofœtopathologie, Service d'Histologie Embryologie Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.

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http://doi.wiley.com/10.1002/bdr2.1191
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http://dx.doi.org/10.1002/bdr2.1191DOI Listing
April 2018

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

Birth Defects Res 2017 Nov 31;109(19):1586-1595. Epub 2017 Jul 31.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France.

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http://dx.doi.org/10.1002/bdr2.1093DOI Listing
November 2017

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

Eur J Med Genet 2016 Apr 24;59(4):195-7. Epub 2016 Feb 24.

Centre de référence des surdités génétiques, Service de Génétique, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.02.012DOI Listing
April 2016

First fetal case of the 8q24.3 contiguous genes syndrome.

Am J Med Genet A 2016 Jan 5;170A(1):239-42. Epub 2015 Oct 5.

Department of Histology-Embryology and Cytogenetics, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37411DOI Listing
January 2016

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.

J Med Case Rep 2015 Nov 5;9:254. Epub 2015 Nov 5.

Université d'Orléans & CNRS, INEM-UMR7355, Immunologie Expérimentale et Moléculaire & Neurogénétique, Orléans, France.

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http://dx.doi.org/10.1186/s13256-015-0732-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4635607PMC
November 2015

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Eur J Hum Genet 2015 May 20;23(5):621-7. Epub 2014 Aug 20.

1] INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France [3] Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402632PMC
May 2015

A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

Clin Dysmorphol 2015 Apr;24(2):61-4

aIntergen Genetic Diseases Diagnostic Center, Ankara bMedical Genetics Clinic, Women and Children Hospital, Mersin cRadiology Department, School Of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey dDepartment of Histology-Embryology and Cytogenetics, Necker-Enfants malades Hospital, AP-HP eParis Descartes - Sorbonne Paris Cité University, Imagine Institute fINSERM UMR 1163, Embryology and Genetics of Human Malformation, Paris, France.

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http://dx.doi.org/10.1097/MCD.0000000000000080DOI Listing
April 2015

Inappropriate p53 activation during development induces features of CHARGE syndrome.

Nature 2014 Oct 3;514(7521):228-32. Epub 2014 Aug 3.

1] Department of Radiation Oncology, Division of Radiation and Cancer Biology, Stanford University School of Medicine, Stanford, California 94305, USA [2] Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.

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http://dx.doi.org/10.1038/nature13585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4192026PMC
October 2014

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

Eur J Med Genet 2013 Oct 15;56(10):580-3. Epub 2013 Aug 15.

Service de Génétique, laboratoire de Cytogénétique, CHU de Caen, Université Caen Basse-Normandie, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.08.002DOI Listing
October 2013

[From foetopathology to disease-causing gene].

Ann Pathol 2012 Nov 12;32(5 Suppl):S48-9. Epub 2012 Oct 12.

Département de génétique et Inserm U781, hôpital Necker-Enfants-Malades, 149, rue de Sèvres, 75743 Paris cedex 15, France.

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http://dx.doi.org/10.1016/j.annpat.2012.08.007DOI Listing
November 2012

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.

Pediatr Nephrol 2012 Jan 19;27(1):7-15. Epub 2011 Jan 19.

INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1007/s00467-010-1751-3DOI Listing
January 2012

Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.

Am J Med Genet A 2011 Oct 9;155A(10):2465-8. Epub 2011 Sep 9.

Amrita Institute of Medical Sciences & Research Center, Department of Pediatric Genetics, AIMS Ponekkara, Cochin, Kerala, India.

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http://dx.doi.org/10.1002/ajmg.a.34205DOI Listing
October 2011

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Mol Genet Metab 2010 Oct-Nov;101(2-3):253-7. Epub 2010 Jun 22.

AP-HP, Hôpital Necker-Enfants Malades, Centre de médecine fœtale et Maternité de Necker-Brune, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.009DOI Listing
January 2011

PAX2 mutations in fetal renal hypodysplasia.

Am J Med Genet A 2010 Apr;152A(4):830-5

AP-HP, Unit of Embryo-Fetal Pathology, Department of Histo-Embryology and Cytogenetics, Necker Hospital, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.33133DOI Listing
April 2010

A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia.

Eur J Med Genet 2009 Jul-Aug;52(4):256-9. Epub 2009 Feb 6.

Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.004DOI Listing
November 2009

Expanding CEP290 mutational spectrum in ciliopathies.

Authors:
Lorena Travaglini Francesco Brancati Tania Attie-Bitach Sophie Audollent Enrico Bertini Josseline Kaplan Isabelle Perrault Miriam Iannicelli Brunella Mancuso Luciana Rigoli Jean-Michel Rozet Dominika Swistun Jerlyn Tolentino Bruno Dallapiccola Joseph G Gleeson Enza Maria Valente A Zankl R Leventer P Grattan-Smith A Janecke M D'Hooghe Y Sznajer R Van Coster L Demerleir K Dias C Moco A Moreira C Ae Kim G Maegawa D Petkovic G M H Abdel-Salam A Abdel-Aleem M S Zaki I Marti S Quijano-Roy S Sigaudy P de Lonlay S Romano R Touraine M Koenig C Lagier-Tourenne J Messer P Collignon N Wolf H Philippi S Kitsiou Tzeli S Halldorsson J Johannsdottir P Ludvigsson S R Phadke V Udani B Stuart A Magee D Lev M Michelson B Ben-Zeev R Fischetto F Benedicenti F Stanzial R Borgatti P Accorsi S Battaglia E Fazzi L Giordano L Pinelli L Boccone S Bigoni A Ferlini M A Donati G Caridi M T Divizia F Faravelli G Ghiggeri A Pessagno M Briguglio S Briuglia C D Salpietro G Tortorella A Adami P Castorina F Lalatta G Marra D Riva B Scelsa L Spaccini G Uziel E Del Giudice A M Laverda K Ludwig A Permunian A Suppiej S Signorini C Uggetti R Battini M Di Giacomo M R Cilio M L Di Sabato V Leuzzi P Parisi M Pollazzon M Silengo R De Vescovi D Greco C Romano M Cazzagon A Simonati A A Al-Tawari L Bastaki A Mégarbané V Sabolic Avramovska M M de Jong P Stromme R Koul A Rajab M Azam C Barbot L Martorell Sampol B Rodriguez I Pascual-Castroviejo S Teber B Anlar S Comu E Karaca H Kayserili A Yüksel M Akcakus L Al Gazali L Sztriha D Nicholl C G Woods C Bennett J Hurst E Sheridan A Barnicoat R Hennekam M Lees E Blair S Bernes H Sanchez A E Clark E DeMarco C Donahue E Sherr J Hahn T D Sanger T E Gallager W B Dobyns C Daugherty K S Krishnamoorthy D Sarco C A Walsh T McKanna J Milisa W K Chung D C De Vivo H Raynes R Schubert A Seward D G Brooks A Goldstein J Caldwell E Finsecke B L Maria K Holden R P Cruse K J Swoboda D Viskochil

Am J Med Genet A 2009 Oct;149A(10):2173-80

CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340070PMC
October 2009