ACNP - Italian Periodicals Catalogue

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Results: 1-10 |

Results: 10

A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay

Authors: Der Kaloustian, VM Pelletier, M Costa, T Blackston, DR Oudjhane, K

Citation: Vm. Der Kaloustian et al., A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay, CLIN DYSMOR, 10(2), 2001, pp. 87-93

Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy

Authors: Lambert, DM Watters, G Andermann, F Der Kaloustian, VM

Citation: Dm. Lambert et al., Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy, AM J MED G, 104(4), 2001, pp. 343-344

A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED) (vol 100, pg 164, 2001)

Authors: Fraser, FC Der Kaloustian, VM

Citation: Fc. Fraser et Vm. Der Kaloustian, A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED) (vol 100, pg 164, 2001), AM J MED G, 102(4), 2001, pp. 394-394

Stable non-Robertsonian dicentric chromosomes: four new cases and a review

Authors: Lemyre, E Der Kaloustian, VM Duncan, AMV

Citation: E. Lemyre et al., Stable non-Robertsonian dicentric chromosomes: four new cases and a review, J MED GENET, 38(1), 2001, pp. 76-79

Phenotype of a patient with pure partial trisomy 2p(p23 -> pter)

Authors: Al-Saffar, M Lemyre, E Koenekoop, R Duncan, AMV Der Kaloustian, VM

Citation: M. Al-saffar et al., Phenotype of a patient with pure partial trisomy 2p(p23 -> pter), AM J MED G, 94(5), 2000, pp. 428-432

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

Authors: Belleh, S Zhou, GM Wang, M Der Kaloustian, VM Pagon, RA Godfrey, M

Citation: S. Belleh et al., Two novel fibrillin-2 mutations in congenital contractural arachnodactyly, AM J MED G, 92(1), 2000, pp. 7-12

Knobloch syndrome involving midline scalp defect of the frontal region

Authors: Sniderman, LC Koenekoop, RK O'Gorman, AM Usher, RH Sufrategui, MR Moroz, B Watters, GV Der Kaloustian, VM

Citation: Lc. Sniderman et al., Knobloch syndrome involving midline scalp defect of the frontal region, AM J MED G, 90(2), 2000, pp. 146-149

Nijmegen breakage syndrome

Authors: Hiel, JA Weemaes, CM van den Heuvel, LP van Engelen, BG Gabreels, FJ Smeets, DF van der Burgt, I Chrzanovska, KH Bernatowska, E Krajewska-Walasek, M Bialecka, M Abramczuk, D Gregorek, H Michalkiewicz, I Perek, D Midro, AT Seemanova, E Belohradsky, BH Solder, B Barbi, G Wegner, RD Sperling, K Dixon, J Maraschio, P Marseglia, GL Green, A Taylor, AM Der Kaloustian, VM Komatsu, K Matsuura, S Conley, ME Concannon, P Gatti, RA

Citation: Ja. Hiel et al., Nijmegen breakage syndrome, ARCH DIS CH, 82(5), 2000, pp. 400-406

A radiation hybrid map of 48 loci including the Clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q

Authors: Kibar, Z Lafreniere, RG Chakravarti, A Wang, JC Chevrette, M Der Kaloustian, VM Rouleau, GA

Citation: Z. Kibar et al., A radiation hybrid map of 48 loci including the Clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q, GENOMICS, 56(1), 1999, pp. 127-130

The Camera-Marugo-Cohen syndrome: Report of two new patients

Authors: Lambert, DM Watters, G Andermann, F Der Kaloustian, VM

Citation: Dm. Lambert et al., The Camera-Marugo-Cohen syndrome: Report of two new patients, AM J MED G, 86(3), 1999, pp. 208-214

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