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Results:
1-22
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Results: 22
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:
Faivre, L
Cormier-Daire, V
Genevieve, D
Pinto, G
Goulet, O
Munnich, A
Maroteaux, P
Le Merrer, M
Citation: L. Faivre et al., A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia, CLIN DYSMOR, 10(3), 2001, pp. 181-184
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:
Thauvin-Robinet, C
Faivre, L
Beer, F
Justrabo, E
Nivelon-Chevallier, A
Huer, F
Citation: C. Thauvin-robinet et al., Infantile systemic hyalinosis: a case with atypical prolonged survival, ACT PAEDIAT, 90(6), 2001, pp. 705-706
Authors:
Thauvin-Robinet, C
Rousseau, T
Durand, C
Laurent, N
Maingueneau, C
Faivre, L
Sagot, P
Nivelon-Chevallier, A
Citation: C. Thauvin-robinet et al., Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly, PRENAT DIAG, 21(6), 2001, pp. 466-470
Authors:
Faivre, L
Nivelon-Chevallier, A
Kottler, ML
Robinet, C
Van Kien, PK
Lorcerie, B
Munnich, A
Maroteaux, P
Cormier-Daire, V
LeMerrer, M
Citation: L. Faivre et al., Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome, AM J MED G, 99(2), 2001, pp. 132-136
Authors:
Faivre, L
Vekemans, M
Sanlaville, D
Munnich, A
Cormier-Daire, V
Citation: L. Faivre et al., No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients, AM J MED G, 99(2), 2001, pp. 166-167
Authors:
Faivre, L
Saoudi, S
Astier, A
Hamadas, C
Conort, O
Boivin, H
Sabatier, B
Taburet, AM
Lecointre, K
Bellanger, A
Radideau, E
Thuillier, A
Citation: L. Faivre et al., FK 506 dose in transplantation: From theory to practice, TRANSPLAN P, 33(4), 2001, pp. 2594-2597
Authors:
Faivre, L
Le Merrer, M
Baumann, C
Polak, M
Chatelain, P
Sulmont, V
Cousin, J
Bost, M
Cordier, MP
Zackai, E
Russell, K
Finidori, G
Pouliquen, JC
Munnich, A
Maroteaux, P
Cormier-Daire, V
Citation: L. Faivre et al., Acromicric dysplasia: long term outcome and evidence of autosomal dominantinheritance, J MED GENET, 38(11), 2001, pp. 745-749
Authors:
Faivre, L
Bonnefont, JP
Lyonnet, S
Munnich, A
Vekemans, M
Citation: L. Faivre et al., Improvement of cystic fibrosis using antitumoral drugs: a hypothesis, MED HYPOTH, 54(4), 2000, pp. 580-581
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:
Faivre, L
Prieur, AM
Le Merrer, M
Hayem, F
Penet, C
Woo, P
Hofer, M
Dagoneau, N
Sermet, I
Munnich, A
Cormier-Daire, V
Citation: L. Faivre et al., Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome, AM J MED G, 95(3), 2000, pp. 233-236
Authors:
Faivre, L
Viot, G
Prieur, M
Turleau, C
Gosset, P
Romana, S
Munnich, A
Vekemans, M
Cormier-Daire, V
Citation: L. Faivre et al., Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism, AM J MED G, 91(4), 2000, pp. 273-276
Authors:
Faivre, L
Le Merrer, M
Megarbane, A
Gilbert, B
Mortier, G
Cusin, V
Munnich, A
Maroteaux, P
Cormier-Daire, V
Citation: L. Faivre et al., Exclusion of chromosome 9 helps to identify mild variants of acromesomelicdysplasia Maroteaux type, J MED GENET, 37(1), 2000, pp. 52-54
Authors:
Faivre, L
Guardiola, P
Lewis, C
Dokal, I
Ebell, W
Zatterale, Z
Altay, C
Poole, J
Stones, D
Kwee, ML
van Weel-Sipman, M
Havenga, C
Morgan, N
de Winter, J
Digweed, M
Savoia, A
Pronk, J
de Ravel, T
Jansen, S
Joenje, H
Gluckman, E
Mathew, CG
Citation: L. Faivre et al., Association of complementation group and mutation type with clinical outcome in Fanconi anemia, BLOOD, 96(13), 2000, pp. 4064-4070
Authors:
Faivre, L
Radford, I
Viot, G
Edery, P
Munnich, A
Tardieu, M
Vekemans, M
Citation: L. Faivre et al., Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q, ANN GENET, 43(1), 2000, pp. 35-38
Authors:
Sol-Caubel, I
Castela, F
Brousse, V
Faivre, L
Guigonis, V
Thiriez, G
de Villemeur, TB
Citation: I. Sol-caubel et al., Prion diseases in pediatrics, ARCH PED, 6(3), 1999, pp. 293-301
Authors:
Faivre, L
Morichon-Delvallez, N
Viot, G
Larget-Piet, A
Narcy, F
Turleau, C
Pinson, MP
Dumez, Y
Munnich, A
Vekemans, M
Citation: L. Faivre et al., Prenatal diagnosis of a satellited non-acrocentric chromosome derived froma maternal translocation (10;13)(p13;p12) and review of literature, PRENAT DIAG, 19(3), 1999, pp. 282-286
Authors:
Faivre, L
Van Kien, PK
Madinier-Chappat, N
Nivelon-Chevallier, A
Beer, F
LeMerrer, M
Citation: L. Faivre et al., Can Hutchinson-Gilford progeria syndrome be a neonatal condition?, AM J MED G, 87(5), 1999, pp. 450-452
Authors:
Faivre, L
Houssin, D
Valayer, J
Brouard, J
Hadchouel, M
Bernard, O
Citation: L. Faivre et al., Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia, J INH MET D, 22(6), 1999, pp. 723-732
Authors:
Faivre, L
Vekemans, M
Citation: L. Faivre et M. Vekemans, Risk factors for heart defects in Down syndrome, TERATOLOGY, 59(3), 1999, pp. 132-132
Authors:
Faivre, L
Delezoide, AL
Narcy, F
Razavi, F
Bouvier, R
Cormier-Daire, V
Briard, ML
Lyonnet, S
Vekemans, M
Munnich, A
Le Merrer, M
Citation: L. Faivre et al., A new lethal syndrome of exomphalos, short limbs, and macrogonadism, J MED GENET, 36(2), 1999, pp. 131-136
Risultati:
1-22
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