Search Results - "Alembik, Y"

Dento-Craniofacial Phenotypes and underlying Molecular Mechanisms in Hypohidrotic Ectodermal Dysplasia (HED): a Review by Clauss, F., Manière, M.-C., Obry, F., Waltmann, E., Hadj-Rabia, S., Bodemer, C., Alembik, Y., Lesot, H., Schmittbuhl, M.

“…The hypohidrotic ectodermal dysplasias (HED) belong to a large and heterogenous nosological group of polymalfomative syndromes characterized by dystrophy or…”
Get full text

Associated malformations in patients with anorectal anomalies by Stoll, C, Alembik, Y, Dott, B, Roth, M.P

“…Abstract Patients with congenital anorectal malformations (ARM) often have other associated congenital defects. The reported incidence and the types of…”
Get full text

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 by 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

Get full text

Postnatal phenotype according to prenatal ultrasound features of Noonan syndrome: a retrospective study of 28 cases by Gaudineau, A., Doray, B., Schaefer, E., Sananès, N., Fritz, G., Kohler, M., Alembik, Y., Viville, B., Favre, R., Langer, B.

“…ABSTRACT Objective Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. Classically, it combines postnatal growth restriction…”
Get full text

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study by 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

“…Oral–facial–digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include…”
Get full text

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings by 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

“…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. X‐linked and autosomal…”
Get full text

Associated malformations in cases with congenital diaphragmatic hernia by Stoll, C, Alembik, Y, Dott, B, Roth, M-P

“…The etiology of congenital diaphragmatic hernia (CDH) is unclear and its pathogenesis is controversial. Because previous reports have inconsistently noted the…”
Get more information

Associated malformations among infants with radial ray deficiency by Stoll, C, Dott, B, Alembik, Y, Roth, M-P

“…Infants with radial ray deficiencies very often have other associated congenital anomalies. The reported frequency and types of associated malformations vary…”
Get more information

Associated malformations in cases with oral clefts by STOLL, C, ALEMBIK, Y, DOTT, B, ROTH, M. P

“…Infants with oral clefts (OCs) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between…”
Get full text

Associated malformations in cases with neural tube defects by Stoll, C, Alembik, Y, Dott, B

“…Infants with neural tube defects (NTDs) may have other associated congenital defects. The reported incidence and the types of associated malformations vary…”
Get more information

ASSOCIATED NON DIAPHRAGMATIC ANOMALIES AMONG CASES WITH CONGENITAL DIAPHRAGMATIC HERNIA by Stoll, C, Alembik, Y, Dott, B, Roth, M P

“…Cases with congenital diaphragmatic hernia (CDH) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the…”
Get more information

Are the recommendations on the prevention of neural tube defects working? by Stoll, C., Alembik, Y., Dott, B.

“…Many studies showed that reduction by an estimated 80% or more of neural tube defects (NTD) by consumption of folic acid from before conception is achievable…”
Get full text

In vivo and in vitro effect of E831X mutation by Hinzpeter, A, Costa, C, Alembik, Y, Weiss, L, Goossens, M, Girodon, E, Fanen, P

Get full text

Evaluation of prenatal diagnosis of congenital heart disease by Stoll, C., Alembik, Y., Dott, B., Meyer, M. J., Pennerath, A., Peter, M. O., De Geeter, B.

“…Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. That an increasing number of fetal anomalies…”
Get full text

Intrachromosomal triplication for the distal part of chromosome 15q by Schluth, C., Mattei, M. G., Mignon‐Ravix, C., Salman, S., Alembik, Y., Willig, J., Ginglinger, E., Jeandidier, E.

“…We report the case of a boy whose karyotype at birth showed additional material on one chromosome 15. He underwent treatment for unilateral nephroblastoma at 6…”
Get full text

Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome? by Stoll, C, Alembik, Y

“…Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?: We report on two sibs, a boy and a…”
Get more information

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12 by Lagier‐Tourenne, Clotilde, Ginglinger, E., Alembik, Y., De Saint Martin, A., Peter, M.O., Dulucq, P., Jonveaux, P., Jeandidier, E.

“…Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Instead of trisomy 12q that has been reported as a clinically identifiable…”
Get full text

Landau-Kleffner syndrome: a pharmacologic study of five cases by Marescaux, C, Hirsch, E, Finck, S, Maquet, P, Schlumberger, E, Sellal, F, Metz-Lutz, M N, Alembik, Y, Salmon, E, Franck, G

“…Five children with Landau-Kleffner syndrome (epilepsy, acquired aphasia, and continuous spike-wave discharges during sleep), were treated with antiepileptic…”
Get more information

Familial cylindromatosis by Stoll, C, Alembik, Y, Wilk, A, Grosshans, E

“…Familial cylindromatosis: we report a daughter with turban tumor and her mother with cylindromatosis. The dermal eccrine cylindroma arose as small, solitary…”
Get more information

Evaluation of routine prenatal diagnosis by a registry of congenital anomalies by Stoll, C, Dott, B, Alembik, Y, Roth, M P

“…Prenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by…”
Get more information