T. Attié-bitach: search on Z-Library

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1

A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus

Beaufrère, A, Bessières, B, Bonnière, M, Driessen, M, Alfano, C, Couderc, T, Thiry, M, Thelen, N, Lecuit, M, Attié-Bitach, T, Vekemans, M, Ville, Y, Nguyen, L, Leruez-Ville, M, Encha-Razavi, F

Journal:

Brain Pathology

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

2

Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique

A. Brassier, C. Ottolenghi, N. Boddaert, P. Sonigo, T. Attié-Bitach, A.-E. Millischer-Bellaiche, G. Baujat, V. Cormier-Daire, V. Valayannopoulos, N. Seta, M. Piraud, B. Chadefaux-Vekemans, C. Vianey-S

Journal:

Archives de Pédiatrie

Year:

2012

Language:

english

File:

PDF, 851 KB

english, 2012

3

De la fœtopathologie au gène

Attie-Bitach, Tania

Journal:

Annales de Pathologie

Year:

2012

Language:

french

File:

PDF, 181 KB

french, 2012

4

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

Gardner, Jennifer, Cushion, Thomas, Niotakis, Georgios, Olson, Heather, Grant, P., Scott, Richard, Stoodley, Neil, Cohen, Julie, Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucil

Journal:

Year:

2018

Language:

english

File:

PDF, 2.16 MB

english, 2018

5

Développement craniofacial : morphogenèse et déterminisme

T. Attié-Bitach, M. Vekemans, F. Encha-Razavi

Journal:

Archives de Pédiatrie

Year:

2001

File:

PDF, 258 KB

2001

6

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

Barny, Iris, Perrault, Isabelle, Michel, Christel, Soussan, Mickael, Goudin, Nicolas, Rio, Marlène, Thomas, Sophie, Attié-Bitach, Tania, Hamel, Christian, Dollfus, Hélène, Kaplan, Josseline, Rozet, Je

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.35 MB

english, 2018

7

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

Lefebvre, Mathilde, Dieux-Coeslier, Anne, Baujat, Geneviève, Schaefer, Elise, Judith, Saint-Onge, Bazin, Anne, Pinson, Lucile, Attie-Bitach, Tania, Baumann, Clarisse, Fradin, Melanie, Pierquin, Genevi

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 984 KB

english, 2018

8

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients

Abadie, VÃ©ronique, Hamiaux, Priscilla, Ragot, StÃ©phanie, Legendre, Marine, Malecot, Gaelle, Burtin, Alexia, Attie-Bitach, Tania, Lyonnet, Stanislas, Bilan, FrÃ©dÃ©ric, Gilbert-Dussardier, Brigitte,

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.23 MB

2020

9

Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development

Véronique Chauvet, Feng Qian, Nicolas Boute, Yiqiang Cai, Bunyong Phakdeekitacharoen, Luis F. Onuchic, Tania Attié-Bitach, Liliane Guicharnaud, Olivier Devuyst, Gregory G. Germino, Marie-Claire Gubler

Journal:

The American Journal of Pathology

Year:

2002

Language:

english

File:

PDF, 4.24 MB

english, 2002

10

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

Audrey Putoux, Tania Attie-Bitach, Jéléna Martinovic, Marie-Claire Gubler

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 395 KB

english, 2012

11

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

Odent, S., Attie-Bitach, T., Blayau, M., Mathieu, M., Auge, J., Delezoide, A. L., Le Gall, J. Y., Le Marec, B., Munnich, A., David, V., Vekemans, M.

Journal:

Human Molecular Genetics

Year:

1999

Language:

english

File:

PDF, 390 KB

english, 1999

12

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Legendre, Marine, Abadie, Véronique, Attié-Bitach, Tania, Philip, Nicole, Busa, Tiffany, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Lacombe, Didier, Toutain, Annick, Blesson, Sophie, Julia,

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2017

File:

PDF, 1.93 MB

2017

13

JAGGED1 Gene Expression During Human Embryogenesis Elucidates the Wide Phenotypic Spectrum of Alagille Syndrome

Cécile Crosnier, Tania Attié-Bitach, Férechté Encha-Razavi, Sophie Audollent, Fardouss Soudy, Michelle Hadchouel, Michèle Meunier-Rotival, Michel Vekemans

Journal:

Year:

2000

Language:

english

File:

PDF, 842 KB

english, 2000

14

l-Carnitine is Synthesized in the Human Fetal–Placental Unit: Potential Roles in Placental and Fetal Metabolism

N.A. Oey, N. van Vlies, F.A. Wijburg, R.J.A. Wanders, T. Attie-Bitach, F.M. Vaz

Journal:

Year:

2006

Language:

english

File:

PDF, 172 KB

english, 2006

15

Duplication 8p11,23p11.21 impliquant le gène FGFR1 chez un fœtus présentant une agénésie complète du corps calleux par défaut de commissuration

Leroy, Camille, Encha-Razavi, Ferechte, Maurin, Marie-Laure, Mechler, Charlotte, Kuleva, Marina, Attié-Bitach, Tania, Malan, Valérie, Romana, Serge

Journal:

Year:

2017

Language:

french

File:

PDF, 58 KB

french, 2017

16

Détection moléculaire des aneuploïdies les plus fréquentes par PCR quantitative fluorescente (FQ-PCR)

D. Germanaud, S. Audollent, J. Augé, M. Vekemans, T. Attié-Bitach

Journal:

Archives de Pédiatrie

Year:

2003

Language:

french

File:

PDF, 156 KB

french, 2003

17

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

L. de Pontual, A. Pelet, M. Clement-Ziza, D. Trochet, S.E. Antonarakis, T. Attie-Bitach, P.L. Beales, J.-L. Blouin, F. Dastot-Le Moal, H. Dollfus, M. Goossens, N. Katsanis, R. Touraine, J. Feingold, A

Journal:

Year:

2007

Language:

english

File:

PDF, 213 KB

english, 2007

18

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, Nathalie Collot, Viviane Baral, Sandrine Marlin, Tania Attie-Bitach, Irina Giurgea, Laurent Skopinski, William Reardon, Annick Toutain, Pier

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 5.21 MB

english, 2007

19

Evidence for and against vertical transmission for SARS-CoV-2 (COVID-19)

Lamouroux, A., Attie-Bitach, T., Martinovic, J., Leruez-Ville, M., Ville, Y.

Journal:

American Journal of Obstetrics and Gynecology

Year:

2020

File:

PDF, 1.43 MB

2020

20

De novo trisomy 20p of paternal origin

Myriam Chaabouni, Catherine Turleau, Lotfi Karboul, Lamia Ben Jemaa, Faouzi Maazoul, Tania Attié-Bitach, Serge Romana, Habiba Chaabouni

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 171 KB

english, 2007

21

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Amiel, Jeanne, Laudier, Béatrice, Attié-Bitach, Tania, Trang, Ha, de Pontual, Loïc, Gener, Blanca, Trochet, Delphine, Etchevers, Heather, Ray, Pierre, Simonneau, Michel

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 968 KB

english, 2003

22

P.16.3 DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Ferreboeuf, M., Mariot, V., Bessières, B., Vasiljevic, A., Attié-Bitach, T., Collardeau, S., Roche, S., Magdinier, F., Robin-Ducellier, J., Rameau, P., Whalen, S., Sacconi, S., Mouly, V., Butler-Brown

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

23

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

Duarte, Kévin, Heide, Solveig, Poëa-Guyon, Sandrine, Rousseau, Véronique, Depienne, Christel, Rastetter, Agnès, Nava, Caroline, Attié-Bitach, Tania, Razavi, Ferechté, Martinovic, Jelena, Moutard, Mari

Journal:

Neurobiology of Disease

Year:

2020

File:

PDF, 13.16 MB

2020

24

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Christelle Golzio, Jessica Guirchoun, Catherine Ozilou, Sophie Thomas, Géraldine Goudefroye, Nicole Morichon-Delvallez, Michel Vekemans, Tania Attié-Bitach, Heather C. Etchevers

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 207 KB

english, 2006

25

Pitchfork Regulates Primary Cilia Disassembly and Left-Right Asymmetry

Doris Kinzel, Karsten Boldt, Erica E. Davis, Ingo Burtscher, Dietrich Trümbach, Bill Diplas, Tania Attié-Bitach, Wolfgang Wurst, Nicholas Katsanis, Marius Ueffing, Heiko Lickert

Journal:

Developmental Cell

Year:

2010

Language:

english

File:

PDF, 2.83 MB

english, 2010

26

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

Dawe, H. R., Smith, U. M., Cullinane, A. R., Gerrelli, D., Cox, P., Badano, J. L., Blair-Reid, S., Sriram, N., Katsanis, N., Attie-Bitach, T., Afford, S. C., Copp, A. J., Kelly, D. A., Gull, K., Johns

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 1.27 MB

english, 2006

27

Apport du séquençage haut débit dans la compréhension des formes sévères de ciliopathies

Attié-Bitach, Tania, Thomas, Sophie, Vekemans, Michel

Journal:

Year:

2017

Language:

french

File:

PDF, 57 KB

french, 2017

28

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

Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Lauren

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.75 MB

english, 2018

29

A novel KIF7 mutation in two affected siblings with acrocallosal syndrome

Karaer, Kadri, Yuksel, Zafer, Ichkou, Amale, Calisir, Cuneyt, Attié-Bitach, Tania

Journal:

Clinical Dysmorphology

Year:

2015

Language:

english

File:

PDF, 152 KB

english, 2015

30

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

Dimitrov, A., Paupe, V., Gueudry, C., Sibarita, J.-B., Raposo, G., Vielemeyer, O., Gilbert, T., Csaba, Z., Attie-Bitach, T., Cormier-Daire, V., Gressens, P., Rustin, P., Perez, F., El Ghouzzi, V.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 1.31 MB

english, 2008

31

OC06.03: Fetal MRI findings in a cohort of 26 cases of prenatally diagnosed CHARGE syndrome

Millischer, A., Sonigo, P., Attie-Bitach, T., Spaggiari, E., Bessières, B., Boddaert, N., Salomon, L.J., Grevent, D.

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2018

Language:

english

File:

PDF, 50 KB

english, 2018

32

PAX2 mutations in oligomeganephronia

Salomon, Remi, Tellier, Anne-Lorraine, Attie-Bitach, Tania, Amiel, Jeanne, Vekemans, Michel, Lyonnet, Stanislas, Dureau, Pascal, Niaudet, Patrick, Gubler, Marie-Claire, Broyer, Michel

Journal:

Kidney International

Year:

2001

Language:

english

File:

PDF, 1.74 MB

english, 2001

33

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

Valérie Malan, Jelena Martinovic, Damien Sanlaville, Stéphanie Caillat, Marie-Christine Perrier Waill, Marie-Laure Maurin Ganne, Julia Tantau, Tania Attie-Bitach, Michel Vekemans, Nicole Morichon-Delv

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 191 KB

english, 2006

34

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

Yolanda Espinosa-Parrilla, Férechté Encha-Razavi, Tania Attié-Bitach, Jelena Martinovic, Nicole Morichon-Delvallez, Arnold Munnich, Michel Vekemans, Stanislas Lyonnet, Jeanne Amiel

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 124 KB

english, 2004

35

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

Vincent Cantagrel, Jennifer L. Silhavy, Stephanie L. Bielas, Dominika Swistun, Sarah E. Marsh, Julien Y. Bertrand, Sophie Audollent, Tania Attié-Bitach, Kenton R. Holden, William B. Dobyns, David Trav

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.06 MB

english, 2008

36

Cerebral dysgenesis does not exclude OFD I syndrome

Christel Thauvin-Robinet, Gaëtan Lesca, Bernard Aral, Nadège Gigot, Sandy Lambert, Lucie Gueneau, Marina Macca, Brunella Franco, Frédéric Huet, Marie-Thérèse Zabot, Tania Attié-Bitach, Jocelyne Attia-

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 73 KB

english, 2011

37

Genotype–phenotype correlation in four 15q24 deleted patients identified by array-CGH

Joris Andrieux, Christèle Dubourg, Marlène Rio, Tania Attie-Bitach, Elsa Delaby, Michèle Mathieu, Hubert Journel, Henri Copin, Eléonore Blondeel, Martine Doco-Fenzy, Emilie Landais, Bruno Delobel, Syl

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 146 KB

english, 2009

38

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

Ines Ouertani, Myriam Chaabouni, Ilhem Turki, Marc Lelorc'h, Tania Attié-Bitach, Lamia Ben Jemaa, Neziha Khouja-Gouider, Habiba Chaabouni

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 199 KB

english, 2009

39

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

N. Philip, L. Colleaux, S. Sigaudy, T. Attié-Bitach, C. Missirian, A. Moncla, M.G. Mattei, G. Bollini

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 307 KB

english, 2005

40

New ocular phenotype associated with a mutation in the PAX2 gene

Beby, F, Roche, O, Cochat, P, Ranchin, B, Kohler, R, Bonifas, C, Cordier, M-P, Attie-Bitach, T, Burillon, C, Denis, P

Journal:

Year:

2010

Language:

english

File:

PDF, 188 KB

english, 2010

41

Identification and Characterization of an Inner Ear-Expressed Human Melanoma Inhibitory Activity (MIA)-like Gene (MIAL) with a Frequent Polymorphism That Abolishes Translation

Nanna D. Rendtorff, Morten Frödin, Tania Attié-Bitach, Michel Vekemans, Niels Tommerup

Journal:

Year:

2001

Language:

english

File:

PDF, 689 KB

english, 2001

42

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

Jeanpierre, C., Mace, G., Parisot, M., Moriniere, V., Pawtowsky, A., Benabou, M., Martinovic, J., Amiel, J., Attie-Bitach, T., Delezoide, A.-L., Loget, P., Blanchet, P., Gaillard, D., Gonzales, M., Ca

Journal:

Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 135 KB

english, 2011

43

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

Dimitrov, A., Paupe, V., Gueudry, C., Sibarita, J.-B., Raposo, G., Vielemeyer, O., Gilbert, T., Csaba, Z., Attie-Bitach, T., Cormier-Daire, V., Gressens, P., Rustin, P., Perez, F., El Ghouzzi, V.

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 140 KB

english, 2009

44

A practical approach to the examination of the malformed fetal brain: impact on genetic counselling

Encha-Razavi, Férechté, Gonzalès, Marie, Laquerrière, Annie, Martinovic, Jelena, Sinico, Martine, Allias, Fabienne, Bonnière, Maryse, Esculpavit, Chantal, Gerard, Marion, Attié-Bitach, Tania, Vekemans

Journal:

Year:

2008

Language:

english

File:

PDF, 619 KB

english, 2008

45

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

Valayannopoulos, V., Michot, C., Rodriguez, D., Hubert, L., Saillour, Y., Labrune, P., de Laveaucoupet, J., Brunelle, F., Amiel, J., Lyonnet, S., Enza-Razavi, F., Attie-Bitach, T., Lacombe, D., Bahi-B

Journal:

Year:

2012

Language:

english

File:

PDF, 372 KB

english, 2012

46

Expression and mutation analysis ofBRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p

P. Lichtner, T. Attié-Bitach, S. Schuffenhauer, J. Henwood, P. Bouvagnet, P. Scambler, T. Meitinger, M. Vekemans

Journal:

Journal of Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 412 KB

english, 2002

47

PAX8 , TITF1 , and FOXE1 Gene Expression Patterns during Human Development: New Insights into Human Thyroid Development and Thyroid Dysgenesis-Associated Malformations

Trueba, Sylvia Sura, Augé, Joëlle, Mattei, Géraldine, Etchevers, Heather, Martinovic, Jélééna, Czernichow, Paul, Vekemans, Michel, Polak, Michel, Attié-Bitach, Tania

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2005

Language:

english

File:

PDF, 809 KB

english, 2005

48

Clinical, chromosomal and molecular characterization of a cohort of 273 patients with agenesis of the corpus callosum

Heide, Solveig, Billette de Villemeur, Thierry, Nava, Caroline, Rastetter, Agnès, Mignot, Cyril, Depienne, Christel, Keren, Boris, Chantot-Bastaraud, Sandra, Attié-Bitach, Tania, Boutaud, Lucile, Afen

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 41 KB

english, 2017

49

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

Quélin, Chloé, Loget, Philippe, Boutaud, Lucile, Elkhartoufi, Nadia, Milon, Joelle, Odent, Sylvie, Fradin, Mélanie, Demurger, Florence, Pasquier, Laurent, Thomas, Sophie, Attié-Bitach, Tania

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 515 KB

english, 2018

50

Expanding CEP290 mutational spectrum in ciliopathies

Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, Sophie Audollent, Enrico Bertini, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, Luciana Rigoli, Jean-Michel Rozet

Journal:

American Journal of Medical Genetics Part A

Year:

2009

File:

PDF, 212 KB

2009

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