T. Attie-Bitach : rechercher sur Z-Library

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1

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

Année:

2012

Langue:

english

Fichier:

PDF, 851 KB

english, 2012

2

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

Année:

2002

Langue:

english

Fichier:

PDF, 4.24 MB

english, 2002

3

Développement craniofacial : morphogenèse et déterminisme

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

Journal:

Archives de Pédiatrie

Année:

2001

Fichier:

PDF, 258 KB

2001

4

De la fœtopathologie au gène

Attie-Bitach, Tania

Journal:

Annales de Pathologie

Année:

2012

Langue:

french

Fichier:

PDF, 181 KB

french, 2012

5

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

Année:

2018

Langue:

english

Fichier:

PDF, 984 KB

english, 2018

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

Année:

2018

Langue:

english

Fichier:

PDF, 1.35 MB

english, 2018

7

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

Année:

2018

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2018

8

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:

Année:

2018

Langue:

english

Fichier:

PDF, 2.16 MB

english, 2018

9

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

Année:

2020

Fichier:

PDF, 1.23 MB

2020

10

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

Année:

2005

Langue:

english

Fichier:

PDF, 307 KB

english, 2005

11

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

Année:

2007

Langue:

english

Fichier:

PDF, 171 KB

english, 2007

12

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

Année:

2009

Fichier:

PDF, 212 KB

2009

13

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

Année:

2009

Langue:

english

Fichier:

PDF, 146 KB

english, 2009

14

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

Année:

2011

Langue:

english

Fichier:

PDF, 73 KB

english, 2011

15

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

Sheela Nampoothiri, Shwetha Kuthiroly, Christine Fauth, Birgit Krabichler, Tania Attie-Bitach, Raoul C. Hennekam

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2011

16

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:

Année:

2007

Langue:

english

Fichier:

PDF, 213 KB

english, 2007

17

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

Année:

2001

Langue:

english

Fichier:

PDF, 1.74 MB

english, 2001

18

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

Année:

2006

Langue:

english

Fichier:

PDF, 191 KB

english, 2006

19

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

Année:

2006

Langue:

english

Fichier:

PDF, 207 KB

english, 2006

20

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

Bernadette Chadefaux Vekemans, Jean-Paul Bonnefont, Joëlle Aupetit, Ghislaine Royer, Véronique Droin, Tania Attié-Bitach, Jean-Marie Saudubray, Laure Thuillier

Journal:

Prenatal Diagnosis

Année:

2003

Langue:

english

Fichier:

PDF, 78 KB

english, 2003

21

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

Année:

2004

Langue:

english

Fichier:

PDF, 124 KB

english, 2004

22

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

Année:

2002

Langue:

english

Fichier:

PDF, 412 KB

english, 2002

23

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

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

Journal:

Pediatric Nephrology

Année:

2012

Langue:

english

Fichier:

PDF, 395 KB

english, 2012

24

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

Nadia A. Oey, Jos P. N. Ruiter, Tania Attié-Bitach, Lodewijk IJlst, Ronald J. A. Wanders, Frits A. Wijburg

Journal:

Journal of Inherited Metabolic Disease

Année:

2006

Langue:

english

Fichier:

PDF, 236 KB

english, 2006

25

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

A Delahaye, Y Sznajer, S Lyonnet, M Elmaleh-Bergès, I Delpierre, S Audollent, S Wiener-Vacher, A-L Mansbach, J Amiel, C Baumann, D Bremond-Gignac, T Attié-Bitach, A Verloes, D Sanlaville

Journal:

Clinical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 436 KB

english, 2007

26

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:

Année:

2010

Langue:

english

Fichier:

PDF, 188 KB

english, 2010

27

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

Année:

2003

Langue:

english

Fichier:

PDF, 968 KB

english, 2003

28

Segregation at three loci explains familial and population risk in Hirschsprung disease

Gabriel, Stacey Bolk, Salomon, Rémi, Pelet, Anna, Angrist, Misha, Amiel, Jeanne, Fornage, Myriam, Attié-Bitach, Tania, Olson, Jane M., Hofstra, Robert, Buys, Charles, Steffann, Julie, Munnich, Arnold,

Journal:

Nature Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 939 KB

english, 2002

29

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:

Année:

2000

Langue:

english

Fichier:

PDF, 842 KB

english, 2000

30

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

Année:

2008

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2008

31

Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development

M.-L. Sobrier, T. Attié-Bitach, I. Netchine, F. Encha-Razavi, M. Vekemans, S. Amselem

Journal:

Gene Expression Patterns

Année:

2004

Langue:

english

Fichier:

PDF, 488 KB

english, 2004

32

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:

Année:

2006

Langue:

english

Fichier:

PDF, 172 KB

english, 2006

33

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:

Année:

2001

Langue:

english

Fichier:

PDF, 689 KB

english, 2001

34

Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain

N.A. Oey, J.P.N. Ruiter, L. IJlst, T. Attie-Bitach, M. Vekemans, R.J.A. Wanders, F.A. Wijburg

Journal:

Biochemical and Biophysical Research Communications

Année:

2006

Langue:

english

Fichier:

PDF, 605 KB

english, 2006

35

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

Année:

2010

Langue:

english

Fichier:

PDF, 2.83 MB

english, 2010

36

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

Année:

2009

Langue:

english

Fichier:

PDF, 199 KB

english, 2009

37

Renal coloboma syndrome

Pascal Dureau, Tania Attie-Bitach, Rémi Salomon, Olivier Bettembourg, Jeanne Amiel, Yves Uteza, Jean-Louis Dufier

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 244 KB

english, 2001

38

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

Année:

2003

Langue:

french

Fichier:

PDF, 156 KB

french, 2003

39

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Renaud L. Touraine, Tania Attié-Bitach, Eric Manceau, Eckhard Korsch, Pierre Sarda, Véronique Pingault, Féréchté Encha-Razavi, Anna Pelet, Joelle Augé, Annie Nivelon-Chevallier, Alexander Mathias Hols

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 799 KB

english, 2000

40

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

Année:

2007

Langue:

english

Fichier:

PDF, 5.21 MB

english, 2007

41

Expression of the SMADIP1 gene during early human development

Yolanda Espinosa-Parrilla, Jeanne Amiel, Joëlle Augé, Férechté Encha-Razavi, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Tania Attié-Bitach

Journal:

Mechanisms of Development

Année:

2002

Langue:

english

Fichier:

PDF, 459 KB

english, 2002

42

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid

Essaoui, M., Nizon, M., Beaujard, M.P., Carrier, A., Tantau, J., de Blois, M.C., Fontaine, S., Michot, C., Amiel, J., Bernard, J.P., Attié-Bitach, T., Vekemans, M., Turleau, C., Ville, Y., Malan, V.

Journal:

European Journal of Medical Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 180 KB

english, 2013

43

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

Année:

2013

Langue:

english

Fichier:

PDF, 47 KB

english, 2013

44

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

Molin, Arnaud, Benoist, Guillaume, Jeanne-Pasquier, Corinne, Elkartoufi, Nadia, Litzer, Julie, Decamp, Matthieu, Gruchy, Nicolas, Durand-Malbruny, Marion, Begorre, Marianne, Attie-Bitach, Tania, Lepor

Journal:

European Journal of Medical Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 873 KB

english, 2013

45

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

Année:

2011

Langue:

english

Fichier:

PDF, 135 KB

english, 2011

46

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Ferreboeuf, M., Mariot, V., Bessieres, B., Vasiljevic, A., Attie-Bitach, T., Collardeau, S., Morere, J., Roche, S., Magdinier, F., Robin-Ducellier, J., Rameau, P., Whalen, S., Desnuelle, C., Sacconi,

Journal:

Human Molecular Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 870 KB

english, 2014

47

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

Alby, Caroline, Bessieres, Bettina, Bieth, Eric, Attie-Bitach, Tania, Fermont, Laurent, Citony, Isabelle, Razavi, Ferechté, Vekemans, Michel, Escande, Fabienne, Manouvrier, Sylvie, Malan, Valérie, Ami

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 1.72 MB

english, 2013

48

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

Aguilar, A., Meunier, A., Strehl, L., Martinovic, J., Bonniere, M., Attie-Bitach, T., Encha-Razavi, F., Spassky, N.

Journal:

Proceedings of the National Academy of Sciences

Année:

2012

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2012

49

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

Année:

2006

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2006

50

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

Année:

2015

Langue:

english

Fichier:

PDF, 152 KB

english, 2015