Search Results - "Attie Bitach, T."

Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment by 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

“…ABSTRACT Objective To identify favorable renal histology in fetuses with early severe lower urinary tract obstruction (LUTO) and determine the best timing and…”
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Re-focusing on Agnathia-Otocephaly complex by 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

“…Objectives Agnathia-otocephaly complex is a rare condition characterized by mandibular hypoplasia or agnathia, ear anomalies (melotia/synotia) and microstomia…”
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Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability by 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

“…CHARGE syndrome (OMIM #214800) is a multiple malformation syndrome with distinctive diagnostic criteria, usually because of CHD7 (chromodomain helicase DNA…”
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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia by 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.

“…The 13 subtypes of oral–facial–digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. Disease‐causing genes encode for centrosomal…”
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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease by 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.

“…Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all…”
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GLI3 is rarely implicated in OFD syndromes with midline abnormalities by 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.

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Heterogeneity in defining fetal corpus callosal pathology: systematic review by 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.

“…ABSTRACT Objective Fetal anomalies of the corpus callosum (CC) have been reported in the prenatal imaging literature since 1985, and, especially when isolated,…”
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High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts by 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

“…Background: Recent work suggests that multiple genes and several environmental risk factors influence risk for non-syndromic oral clefts, one of the most…”
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Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid by 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

“…Abstract Discordant chromosomal anomalies in monozygotic twins may be caused by various timing issues of erroneous mitosis and twinning events. Here, we report…”
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EP21.28: Prenatal diagnosis of Primrose syndrome by Abdallah, W., Quibel, T., Brisset, S., Dard, R., Spaggiari, E., Alby‐Averseng, C., Attie‐Bitach, T., Ville, Y., Bault, J.

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Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome by Pinson, L, Augé, J, Audollent, S, Mattéi, G, Etchevers, H, Gigarel, N, Razavi, F, Lacombe, D, Odent, S, Le Merrer, M, Amiel, J, Munnich, A, Meroni, G, Lyonnet, S, Vekemans, M, Attié-Bitach, T

“…[...]we investigated the contribution of chromosome X-inactivation studies to identify the X-linked form of the disease. [...]considering that three obligate…”
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Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly by 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.

“…Holoprosencephaly (HPE), the most common developmental defect of the forebrain and the face, is genetically heterogeneous. One of the genes involved, Sonic…”
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EP23.06: Prenatal diagnosis of Fontaine progeroid syndrome with a de novo mutation in SLC25A24 by 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.

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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 by 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

“…Background: Smith-Magenis syndrome (SMS) is rare (prevalence 1 in 25 000) and is associated with psychomotor delay, a particular behavioural pattern and…”
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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 by Sobrier, M.-L., Attié-Bitach, T., Netchine, I., Encha-Razavi, F., Vekemans, M., Amselem, S.

“…The pathophysiology of combined pituitary hormone deficiency (CPHD) is just beginning to be elucidated, with mutations in genes encoding transcription factors…”
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OC06.03: Fetal MRI findings in a cohort of 26 cases of prenatally diagnosed CHARGE syndrome by Millischer, A., Sonigo, P., Attie‐Bitach, T., Spaggiari, E., Bessières, B., Boddaert, N., Salomon, L.J., Grevent, D.

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EP08.23: Abnormalities of the fetal corpus callosum: is it time to develop a standard approach? by Mahallati, H., Millischer, A., Grevent, D., Sonigo, P., O'Gorman, N., Bahi‐Buisson, N., Alby, C., Attie‐Bitach, T., Ville, Y., Boddaert, N., Salomon, L.J.

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Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p by LICHTNER, P, ATTIE-BITACH, T, SCHUFFENHAUER, S, HENWOOD, J, BOUVAGNET, P, SCAMBLER, P. J, MEITINGER, T, VEKEMANS, M

“…Partial monosomy 10p is a rare chromosomal aberration. Patients often show symptoms of the DiGeorge/velocardiofacial syndrome spectrum. The phenotype is the…”
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P09.10: Prenatal diagnosis of achondroplasia in the second trimester of pregnancy using the biparietal diameter/femur length ratio by Veluppillai, C., Stirnemann, J., Djaafri, F., Bonniere, M., Attie Bitach, T., Sonigo, P., Ville, Y.

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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development by 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

“…Background: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth…”
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