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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Published in:
Clinical Genetics, 2016, v. 90, n. 6, p. 509, doi. 10.1111/cge.12785
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.
Publication type:
Article
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
Published in:
Clinical Genetics, 2007, v. 72, n. 2, p. 112, doi. 10.1111/j.1399-0004.2007.00821.x
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.
Publication type:
Article
Re-focusing on Agnathia-Otocephaly complex.
Published in:
Clinical Oral Investigations, 2021, v. 25, n. 3, p. 1353, doi. 10.1007/s00784-020-03443-w
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
Publication type:
Article
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.
Published in:
Journal of Molecular Medicine, 2002, v. 80, n. 7, p. 431, doi. 10.1007/s00109-002-0331-9
By:
- Lichtner, P.;
- Attié-Bitach, T.;
- Schuffenhauer, S.;
- Henwood, J.;
- Bouvagnet, P.;
- Scambler, P.;
- Meitinger, T.;
- Vekemans, M.
Publication type:
Article
EP23.06: Prenatal diagnosis of Fontaine progeroid syndrome with a de novo mutation in SLC25A24.
Published in:
Ultrasound in Obstetrics & Gynecology, 2022, v. 60, p. 186, doi. 10.1002/uog.25558
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.
Publication type:
Article
Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment.
Published in:
2022
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
Publication type:
journal article
Heterogeneity in defining fetal corpus callosal pathology: systematic review.
Published in:
Ultrasound in Obstetrics & Gynecology, 2021, v. 58, n. 1, p. 11, doi. 10.1002/uog.22179
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.
Publication type:
Article
EP08.23: Abnormalities of the fetal corpus callosum: is it time to develop a standard approach?
Published in:
Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 284, doi. 10.1002/uog.21275
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.
Publication type:
Article
OC06.03: Fetal MRI findings in a cohort of 26 cases of prenatally diagnosed CHARGE syndrome.
Published in:
Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 13, doi. 10.1002/uog.19241
By:
- Millischer, A.;
- Sonigo, P.;
- Attie‐Bitach, T.;
- Spaggiari, E.;
- Bessières, B.;
- Boddaert, N.;
- Salomon, L.J.;
- Grevent, D.
Publication type:
Article
P09.10: Prenatal diagnosis of achondroplasia in the second trimester of pregnancy using the biparietal diameter/femur length ratio.
Published in:
Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 183, doi. 10.1002/uog.18090
By:
- Veluppillai, C.;
- Stirnemann, J.;
- Djaafri, F.;
- Bonniere, M.;
- Attie Bitach, T.;
- Sonigo, P.;
- Ville, Y.
Publication type:
Article
OC24.07: How small can a normal corpus callosum be? Reporting confirmed hypoplastic corpus callosum measures to established normal reference ranges.
Published in:
Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 57, doi. 10.1002/uog.13625
By:
- Ballout El Maoula, A.;
- Chalouhi, G.E.;
- Bault, J.;
- El Kassis, T.;
- Alby, C.;
- Salomon, L.J.;
- Attie Bitach, T.;
- Ville, Y.
Publication type:
Article
P17.03: Fetal diagnosis of Miller-Dieker syndrome revealed by partial corpus callosum agenesis at 20.4 weeks.
Published in:
Ultrasound in Obstetrics & Gynecology, 2012, v. 40, p. 236, doi. 10.1002/uog.11993
By:
- Alby-Averseng, C.;
- Bonniere, M.;
- Hyon, C.;
- Quenum, G.;
- Essaoui, M.;
- Sokolov, D.;
- Suarez, B.;
- Bernard, J.;
- Ville, Y.;
- Vekemans, M.;
- Attie Bitach, T.;
- Razavi, F.
Publication type:
Article
P30.14: The role of prenatal ultrasound and MRI in the prenatal diagnosis of CHARGE: a single centre prenatal series of 10 cases of CHD7 mutated fetuses.
Published in:
Ultrasound in Obstetrics & Gynecology, 2012, v. 40, p. 294, doi. 10.1002/uog.12199
By:
- Alby-Averseng, C.;
- Benzina, N.;
- Bault, J.;
- Stirnemann, J.;
- Russell, N. E.;
- Sonigo, P.;
- Millischer, A.;
- Attie Bitach, T.;
- Salomon, L. J.;
- Ville, Y.
Publication type:
Article
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Published in:
2012
By:
- Valayannopoulos V;
- Michot C;
- Rodriguez D;
- Hubert L;
- Saillour Y;
- Labrune P;
- de Laveaucoupet J;
- Brunelle F;
- Amiel J;
- Lyonnet S;
- Enza-Razavi F;
- Attié-Bitach T;
- Lacombe D;
- Bahi-Buisson N;
- Desguerre I;
- Chelly J;
- Burglen L;
- Boddaert N;
- de Lonlay P
Publication type:
Journal Article
New ocular phenotype associated with a mutation in the PAX2 gene.
Published in:
2010
By:
- Beby, F.;
- Roche, O.;
- Cochat, P.;
- Ranchin, B.;
- Kohler, R.;
- Bonifas, C.;
- Cordier, M.-P.;
- Attie-Bitach, T.;
- Burillon, C.;
- Denis, P.
Publication type:
Letter
GLI3 is rarely implicated in OFD syndromes with midline abnormalities.
Published in:
Human Mutation, 2011, v. 32, n. 11, p. 1332, doi. 10.1002/humu.21570
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.
Publication type:
Article
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
Published in:
Human Mutation, 2007, v. 28, n. 8, p. 790, doi. 10.1002/humu.20517
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.
Publication type:
Article
Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 9, p. 1683, doi. 10.1093/hmg/8.9.1683
By:
- 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.
Publication type:
Article

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