Heterogeneity in defining fetal corpus callosal pathology: systematic review
Mahallati, H., Sotiriadis, A., Celestin, C., Millischer, A. E., Sonigo, P., Grevent, D., O'Gorman, N., Bahi‐Buisson, N., Attié‐Bitach, T., Ville, Y., Salomon, L. J.
Published in Ultrasound in obstetrics & gynecology (01.07.2021)
Published in Ultrasound in obstetrics & gynecology (01.07.2021)
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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
Sanlaville, D, Etchevers, H C, Gonzales, M, Martinovic, J, Clément-Ziza, M, Delezoide, A-L, Aubry, M-C, Pelet, A, Chemouny, S, Cruaud, C, Audollent, S, Esculpavit, C, Goudefroye, G, Ozilou, C, Fredouille, C, Joye, N, Morichon-Delvallez, N, Dumez, Y, Weissenbach, J, Munnich, A, Amiel, J, Encha-Razavi, F, Lyonnet, S, Vekemans, M, Attié-Bitach, T
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment
Thauvin-Robinet, C, Thomas, S, Sinico, M, Aral, B, Burglen, L, Gigot, N, Dollfus, H, Rossignol, S, Raynaud, M, Philippe, C, Badens, C, Touraine, R, Gomes, C, Franco, B, Lopez, E, Elkhartoufi, N, Faivre, L, Munnich, A, Boddaert, N, Maldergem, L Van, Encha-Razavi, F, Lyonnet, S, Vekemans, M, Escudier, E, Attié-Bitach, T
Published in Clinical genetics (01.07.2013)
Published in Clinical genetics (01.07.2013)
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Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment
Vinit, N., Bessières, B., Spaggiari, E., Heidet, L., Gubler, M.‐C., Dreux, S., Attie‐Bitach, T., Blanc, T., Ville, Y., Stirnemann, Julien J., Salomon, Laurent J., Loeuillet, Laurence, Bonnière, Maryse, Salhi, Houria, Roux, Nathalie, Petrilli, Giulia, Guimiot, Fabien, Khung‐Savatovsky, Suonavy, Rosenblatt, Jonathan, Quibel, Thibaud, Leroy, Brigitte, Tsatsaris, Vassilis, Anselem, Olivia, Grange, Gilles, Levaillant, Jean‐Marc, Talhi, Naima
Published in Ultrasound in obstetrics & gynecology (01.04.2022)
Published in Ultrasound in obstetrics & gynecology (01.04.2022)
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Re-focusing on Agnathia-Otocephaly complex
Dubucs, C., Chassaing, N., Sergi, C., Aubert-Mucca, M., Attié-Bitach, T., Lacombe, D., Thauvin-Robinet, C., Arpin, S., Perez, M. J., Cabrol, C., Chen, C. P., Aziza, J., Colin, E., Martinovic, J., Calvas, P., Plaisancié, Julie
Published in Clinical oral investigations (01.03.2021)
Published in Clinical oral investigations (01.03.2021)
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Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability
Delahaye, A, Sznajer, Y, Lyonnet, S, Elmaleh-Bergès, M, Delpierre, I, Audollent, S, Wiener-Vacher, S, Mansbach, A-L, Amiel, J, Baumann, C, Bremond-Gignac, D, Attié-Bitach, T, Verloes, A, Sanlaville, D
Published in Clinical genetics (01.08.2007)
Published in Clinical genetics (01.08.2007)
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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia
Thevenon, J., Duplomb, L., Phadke, S., Eguether, T., Saunier, A., Avila, M., Carmignac, V., Bruel, A.-L., St-Onge, J., Duffourd, Y., Pazour, G.J., Franco, B., Attie-Bitach, T., Masurel-Paulet, A., Rivière, J.-B., Cormier-Daire, V., Philippe, C., Faivre, L., Thauvin-Robinet, C.
Published in Clinical genetics (01.12.2016)
Published in Clinical genetics (01.12.2016)
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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease
de Pontual, L., Pelet, A., Clement-Ziza, M., Trochet, D., Antonarakis, S.E., Attie-Bitach, T., Beales, P.L., Blouin, J.-L., Dastot-Le Moal, F., Dollfus, H., Goossens, M., Katsanis, N., Touraine, R., Feingold, J., Munnich, A., Lyonnet, S., Amiel, J.
Published in Human mutation (01.08.2007)
Published in Human mutation (01.08.2007)
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GLI3 is rarely implicated in OFD syndromes with midline abnormalities
Avila, M., Gigot, N., Aral, B., Callier, P., Gautier, E., Thevenon, J., Pasquier, L., Lopez, E., Gueneau, L., Duplomb, L., Goldenberg, A., Baumann, C., Cormier, V., Marlin, S., Masurel-Paulet, A., Huet, F., Attié-Bitach, T., Faivre, L., Thauvin-Robinet, C.
Published in Human mutation (01.11.2011)
Published in Human mutation (01.11.2011)
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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-Browne, G, Dumonceaux, J
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts
Park, J W, Cai, J, McIntosh, I, Jabs, E W, Fallin, M D, Ingersoll, R, Hetmanski, J B, Vekemans, M, Attie-Bitach, T, Lovett, M, Scott, A F, Beaty, T H
Published in Journal of medical genetics (01.07.2006)
Published in Journal of medical genetics (01.07.2006)
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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
Published in European journal of medical genetics (01.09.2013)
Published in European journal of medical genetics (01.09.2013)
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EP21.28: Prenatal diagnosis of Primrose syndrome
Abdallah, W., Quibel, T., Brisset, S., Dard, R., Spaggiari, E., Alby‐Averseng, C., Attie‐Bitach, T., Ville, Y., Bault, J.
Published in Ultrasound in obstetrics & gynecology (01.10.2023)
Published in Ultrasound in obstetrics & gynecology (01.10.2023)
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A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects
Grampa, V, Delous, M, Silbermann, F, Oyde, G, Krug, P, Filhol, E, Alessandri, JL, Sigaudy, S, Bouvier, R, Zabot, MT, Antignac, C, Gubler, M, Attié-Bitach, T, Benmerah, A, Jeanpierre, C, Saunier, S
Published in Cilia (London) (13.07.2015)
Published in Cilia (London) (13.07.2015)
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Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy
Perrault, I, Halbritter, J, Porath, J, Gerard, X, Braun, D, Gee, H, Fathy, H, Saunier, S, Cormier-Daire, V, Thomas, S, Attié-Bitach, T, Boddaert, N, Taschner, M, Schueler, M, Lorentzen, E, Lifton, R, Otto, E, Bastin, P, Kaplan, J, Hildebrandt, F, Rozet, JM
Published in Cilia (London) (13.07.2015)
Published in Cilia (London) (13.07.2015)
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Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly
Odent, S., Attié-Bitach, T., Blayau, M., Mathieu, M., Augé, J., Delezoïde, A.L., Le Gall, J.Y., Le Marec, B., Munnich, A., David, V., Vekemans, M.
Published in Human molecular genetics (01.09.1999)
Published in Human molecular genetics (01.09.1999)
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EP23.06: Prenatal diagnosis of Fontaine progeroid syndrome with a de novo mutation in SLC25A24
Pannier, E., Roux, N., Boutaud, L., Grotto, S., Molac, C., El Khattabi, L., Ichkou, A., Fourrage, C., Razavi, F., Menzella, D., Grangé, G., Thébault, F., Bernabé‐Dupont, C., Lohmann, L., Goffinet, F., Tsatsaris, V., Attie‐Bitach, T.
Published in Ultrasound in obstetrics & gynecology (01.09.2022)
Published in Ultrasound in obstetrics & gynecology (01.09.2022)
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Genotype–phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions
Andrieux, J, Villenet, C, Quief, S, Lignon, S, Geffroy, S, Roumier, C, de Leersnyder, H, de Blois, M-C, Manouvrier, S, Delobel, B, Benzacken, B, Bitoun, P, Attie-Bitach, T, Thomas, S, Lyonnet, S, Vekemans, M, Kerckaert, J-P
Published in Journal of medical genetics (01.08.2007)
Published in Journal of medical genetics (01.08.2007)
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Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development
Sobrier, M.-L., Attié-Bitach, T., Netchine, I., Encha-Razavi, F., Vekemans, M., Amselem, S.
Published in Gene Expression Patterns (01.12.2004)
Published in Gene Expression Patterns (01.12.2004)
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