AAAAAA
Results: 1-25/34
Authors:
Garcia, G
Chevallier, D
Amiel, J
Toubol, J
Michiels, JF
Citation: G. Garcia et al., Prospective study comparing ultrasound-guided transrectal biopsy and finger-guided transperineal biopsy in the diagnosis of prostate cancer, PROG UROL, 11(1), 2001, pp. 40-44
Authors:
Fuchs, S
Amiel, J
Claudel, S
Lyonnet, S
Corvol, P
Pinet, F
Citation: S. Fuchs et al., Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: Evidence for selective lossof G(i) coupling, MOL MED, 7(2), 2001, pp. 115-124
Authors:
Amiel, J
Bougeard, G
Francannet, C
Raclin, V
Munnich, A
Lyonnet, S
Frebourg, T
Citation: J. Amiel et al., TP63 gene mutation in ADULT syndrome, EUR J HUM G, 9(8), 2001, pp. 642-645
Authors:
Colleaux, L
Rio, M
Heuertz, S
Moindrault, S
Turleau, C
Ozilou, C
Gosset, P
Raoult, O
Lyonnet, S
Cormier-Daire, V
Amiel, J
Le Merrer, M
Picq, M
de Blois, MC
Prieur, M
Romana, S
Cornelis, F
Vekemans, M
Munnich, A
Citation: L. Colleaux et al., A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation, EUR J HUM G, 9(5), 2001, pp. 319-327
Authors:
Mahieu-Caputo, D
Sonigo, P
Amiel, J
Simon, I
Aubry, MC
Lemerrer, M
Delezoide, AL
Gigarel, N
Dommergues, M
Dumez, Y
Citation: D. Mahieu-caputo et al., Prenatal diagnosis of sporadic Apert syndrome: A sequential diagnostic approach combining three-dimensional computed tomography and molecular biology, FETAL DIAGN, 16(1), 2001, pp. 10-12
Authors:
Holder-Espinasse, M
de Blois, MC
Faivre, L
Romana, S
Uteza, Y
Munnich, A
Lyonnet, S
Cormier-Daire, V
Amiel, J
Citation: M. Holder-espinasse et al., Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report, CLIN DYSMOR, 10(4), 2001, pp. 253-255
Authors:
Amiel, J
Faivre, L
Marianowskl, R
Bonnet, D
Couly, G
Manach, Y
Le Merrer, M
Cormier-Daire, V
Munnich, A
Lyonnet, S
Citation: J. Amiel et al., Hypertelorism-Microtia-Clefting Syndrome (Bixler syndrome): report of two unrelated cases, CLIN DYSMOR, 10(1), 2001, pp. 15-18
Authors:
Amiel, J
Gigarel, N
Benacki, A
Benit, P
Valnot, I
Parfait, W
Von Kleist-Retzow, JC
Raclin, V
Hadj-Rabia, S
Dumez, Y
Rustin, P
Bonnefont, JP
Munnich, A
Rotig, A
Citation: J. Amiel et al., Prenatal diagnosis of respiratory chain deficiency by direct mutation screening, PRENAT DIAG, 21(7), 2001, pp. 602-604
Authors:
Dureau, P
Attie-Bitach, T
Salomon, R
Bettembourg, O
Amiel, J
Uteza, Y
Dufier, JL
Citation: P. Dureau et al., Renal coloboma syndrome, OPHTHALMOL, 108(10), 2001, pp. 1912-1916
Authors:
Amiel, J
Attie-Bitach, T
Marianowski, R
Cormier-Daire, V
Abadie, V
Bonnet, D
Gonzales, M
Chemouny, S
Brunelle, F
Munnich, A
Manach, Y
Lyonnet, S
Citation: J. Amiel et al., Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGEsyndrome, AM J MED G, 99(2), 2001, pp. 124-127
Authors:
Salomon, R
Tellier, AL
Attie-Bitach, T
Amiel, J
Vekemans, M
Lyonnet, S
Dureau, P
Niaudet, P
Gubler, MC
Broyer, M
Citation: R. Salomon et al., PAX2 mutations in oligomeganephronia, KIDNEY INT, 59(2), 2001, pp. 457-462
Authors:
Holder-Espinasse, M
Abadie, V
Cormier-Daire, V
Beyler, C
Manach, Y
Munnich, A
Lyonnet, S
Couly, G
Amiel, J
Citation: M. Holder-espinasse et al., Pierre Robin sequence: A series of 117 consecutive cases, J PEDIAT, 139(4), 2001, pp. 588-590
Authors:
Imessaoudene, B
Bonnefont, JP
Royer, G
Cormier-Daire, V
Lyonnet, S
Lyon, G
Munnich, A
Amiel, J
Citation: B. Imessaoudene et al., MECP2 mutation in non-fatal, non-progressive encephalopathy in a male, J MED GENET, 38(3), 2001, pp. 171-174
Authors:
Amiel, J
Lyonnet, S
Citation: J. Amiel et S. Lyonnet, Hirschsprung disease, associated syndromes, and genetics: a review, J MED GENET, 38(11), 2001, pp. 729-739
Authors:
Cattan, I
Rochet, N
Mazeau, C
Zanghellini, E
Mari, B
Chauzy, C
de Novion, HS
Amiel, J
Lagrange, JL
Rossi, B
Gioanni, J
Citation: I. Cattan et al., Establishment of two new human bladder carcinoma cell lines, CAL 29 and CAL 185. Comparative study of cell scattering and epithelial to mesenchyme transition induced by growth factors, BR J CANC, 85(9), 2001, pp. 1412-1417
Authors:
Amiel, J
Espinosa-Parrilla, Y
Steffann, J
Gosset, P
Pelet, A
Prieur, M
Boute, O
Choiset, A
Lacombe, D
Philip, N
Le Merrer, M
Tanaka, H
Till, M
Touraine, R
Toutain, A
Vekemans, M
Munnich, A
Lyonnet, S
Citation: J. Amiel et al., Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures, AM J HU GEN, 69(6), 2001, pp. 1370-1377
Authors:
Amiel, J
Audollent, S
Joly, D
Dureau, P
Salomon, R
Tellier, AL
Auge, J
Bouissou, F
Antignac, C
Gubler, MC
Eccles, MR
Munnich, A
Vekemans, M
Lyonnet, S
Attie-Bitach, T
Citation: J. Amiel et al., PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germlinemosaicism, EUR J HUM G, 8(11), 2000, pp. 820-826
Authors:
Gagnadoux, MF
Attie, T
Amiel, J
Gigarel, N
Bonnefont, JP
Munnich, A
Gubler, MC
Antignac, C
Citation: Mf. Gagnadoux et al., Prenatal diagnosis in autosomal recessive polycystic kidney disease, ARCH PED, 7(9), 2000, pp. 942-947
Authors:
Chretiennot, C
Andreu, J
Simon, I
Amiel, J
Zerah, M
Citation: C. Chretiennot et al., Radiological quiz of the month - Klippel-Feil syndrome, ARCH PED, 7(9), 2000, pp. 982-984
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development
Authors:
Abadie, V
Wiener-Vacher, S
Morisseau-Durand, MP
Poree, C
Amiel, J
Amanou, L
Peigne, C
Lyonnet, S
Manac'h, Y
Citation: V. Abadie et al., Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development, EUR J PED, 159(8), 2000, pp. 569-574
Authors:
Faivre, L
Cormier-Daire, V
Chretien, D
von Kleist-Retzow, JC
Amiel, J
Dommergues, M
Saudubray, JM
Dumez, Y
Rotig, A
Rustin, P
Munnich, A
Citation: L. Faivre et al., Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency, PRENAT DIAG, 20(9), 2000, pp. 732-737
Authors:
Tellier, AL
Amiel, J
Delezoide, AL
Audollent, S
Auge, J
Esnault, D
Encha-Razavi, F
Munnich, A
Lyonnet, S
Vekemans, M
Attie-Bitach, T
Citation: Al. Tellier et al., Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome, AM J MED G, 93(2), 2000, pp. 85-88
Authors:
Sanlaville, D
Aubry, MC
Dumez, Y
Nolen, MC
Amiel, J
Pinson, MP
Lyonnet, S
Munnich, A
Vekemans, M
Morichon-Delvallez, N
Citation: D. Sanlaville et al., Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up, J MED GENET, 37(7), 2000, pp. 525-528
Authors:
Cormier-Daire, V
Amiel, J
Vuillaumier-Barrot, S
Tan, J
Durand, G
Munnich, A
Le Merrer, M
Seta, N
Citation: V. Cormier-daire et al., Congenital disorders of glycosylation IIa cause growth retardation, mentalretardation, and facial dysmorphism, J MED GENET, 37(11), 2000, pp. 875-877
Authors:
Valnot, I
Osmond, S
Gigarel, N
Mehaye, B
Amiel, J
Cormier-Daire, V
Munnich, A
Bonnefont, JP
Rustin, P
Rotig, A
Citation: I. Valnot et al., Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy, AM J HU GEN, 67(5), 2000, pp. 1104-1109