Dento-Craniofacial Phenotypes and underlying Molecular Mechanisms in Hypohidrotic Ectodermal Dysplasia (HED): a Review
Clauss, F., Manière, M.-C., Obry, F., Waltmann, E., Hadj-Rabia, S., Bodemer, C., Alembik, Y., Lesot, H., Schmittbuhl, M.
Published in Journal of dental research (01.12.2008)
Published in Journal of dental research (01.12.2008)
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Associated malformations in patients with anorectal anomalies
Stoll, C, Alembik, Y, Dott, B, Roth, M.P
Published in European journal of medical genetics (01.07.2007)
Published in European journal of medical genetics (01.07.2007)
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Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide
Wilcken, B, Bamforth, F, Li, Z, Zhu, H, Ritvanen, A, Redlund, M, Stoll, C, Alembik, Y, Dott, B, Czeizel, A E, Gelman-Kohan, Z, Scarano, G, Bianca, S, Ettore, G, Tenconi, R, Bellato, S, Scala, I, Mutchinick, O M, López, M A, de Walle, H, Hofstra, R, Joutchenko, L, Kavteladze, L, Bermejo, E, Martínez-Frías, M L, Gallagher, M, Erickson, J D, Vollset, S E, Mastroiacovo, P, Andria, G, Botto, L D
Published in Journal of medical genetics (01.08.2003)
Published in Journal of medical genetics (01.08.2003)
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Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases
Gaudineau, A., Doray, B., Schaefer, E., Sananès, N., Fritz, G., Kohler, M., Alembik, Y., Viville, B., Favre, R., Langer, B.
Published in Prenatal diagnosis (01.03.2013)
Published in Prenatal diagnosis (01.03.2013)
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Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study
Thauvin-Robinet, C, Cossée, M, Cormier-Daire, V, Van Maldergem, L, Toutain, A, Alembik, Y, Bieth, E, Layet, V, Parent, P, David, A, Goldenberg, A, Mortier, G, Héron, D, Sagot, P, Bouvier, A M, Huet, F, Cusin, V, Donzel, A, Devys, D, Teyssier, J R, Faivre, L
Published in Journal of medical genetics (01.01.2006)
Published in Journal of medical genetics (01.01.2006)
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X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings
Clauss, F, Chassaing, N, Smahi, A, Vincent, MC, Calvas, P, Molla, M, Lesot, H, Alembik, Y, Hadj-Rabia, S, Bodemer, C, Manière, MC, Schmittbuhl, M
Published in Clinical genetics (01.09.2010)
Published in Clinical genetics (01.09.2010)
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Associated malformations in cases with oral clefts
Stoll, C, Alembik, Y, Dott, B, Roth, M P
Published in The Cleft palate-craniofacial journal (01.01.2000)
Published in The Cleft palate-craniofacial journal (01.01.2000)
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In vivo and in vitro effect of E831X mutation
Hinzpeter, A, Costa, C, Alembik, Y, Weiss, L, Goossens, M, Girodon, E, Fanen, P
Published in Journal of cystic fibrosis (2009)
Published in Journal of cystic fibrosis (2009)
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Evaluation of prenatal diagnosis of congenital heart disease
Stoll, C., Alembik, Y., Dott, B., Meyer, M. J., Pennerath, A., Peter, M. O., De Geeter, B.
Published in Prenatal diagnosis (01.08.1998)
Published in Prenatal diagnosis (01.08.1998)
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Intrachromosomal triplication for the distal part of chromosome 15q
Schluth, C., Mattei, M. G., Mignon‐Ravix, C., Salman, S., Alembik, Y., Willig, J., Ginglinger, E., Jeandidier, E.
Published in American journal of medical genetics. Part A (15.07.2005)
Published in American journal of medical genetics. Part A (15.07.2005)
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Journal Article
Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12
Lagier‐Tourenne, Clotilde, Ginglinger, E., Alembik, Y., De Saint Martin, A., Peter, M.O., Dulucq, P., Jonveaux, P., Jeandidier, E.
Published in American journal of medical genetics. Part A (15.02.2004)
Published in American journal of medical genetics. Part A (15.02.2004)
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Landau-Kleffner syndrome: a pharmacologic study of five cases
Marescaux, C, Hirsch, E, Finck, S, Maquet, P, Schlumberger, E, Sellal, F, Metz-Lutz, M N, Alembik, Y, Salmon, E, Franck, G
Published in Epilepsia (Copenhagen) (1990)
Published in Epilepsia (Copenhagen) (1990)
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