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Results: 1-7 |
Results: 7
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly
Authors: Orioli, IM Castilla, EE Ming, JE Nazer, J de Aguiar, MJB Llerena, JC Muenke, M
Citation: Im. Orioli et al., Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly, HUM GENET, 109(1), 2001, pp. 1-6
Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences
Authors: Russell, KL Ming, JE Patel, K Jukofsky, L Magnusson, M Krantz, ID
Citation: Kl. Russell et al., Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences, AM J MED G, 104(4), 2001, pp. 267-276
SHH mutation is associated with solitary median maxillary central incisor:A study of 13 patients and review of the literature
Authors: Nanni, L Ming, JE Du, YZ Hall, RK Aldred, M Bankier, A Muenke, M
Citation: L. Nanni et al., SHH mutation is associated with solitary median maxillary central incisor:A study of 13 patients and review of the literature, AM J MED G, 102(1), 2001, pp. 1-10
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting
Authors: Ming, JE Blagowidow, N Knoll, JHM Rollings, L Fortina, P McDonald-McGinn, DM Spinner, NB Zackai, EH
Citation: Je. Ming et al., Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: Effects of imprinting, AM J MED G, 92(1), 2000, pp. 19-24
Molecular basis and characterization of the hyperinsulinism/hyperammonemiasyndrome - Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene
Authors: Stanley, CA Fang, J Kutyna, K Hsu, BYL Ming, JE Glaser, B Poncz, M
Citation: Ca. Stanley et al., Molecular basis and characterization of the hyperinsulinism/hyperammonemiasyndrome - Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene, DIABETES, 49(4), 2000, pp. 667-673
The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
Authors: Nanni, L Ming, JE Bocian, M Steinhaus, K Bianchi, DW de Die-Smulders, C Giannotti, A Imaizumi, K Jones, KL Del Campo, M Martin, RA Meinecke, P Pierpont, MEM Robin, NH Young, ID Roessler, E Muenke, M
Citation: L. Nanni et al., The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly, HUM MOL GEN, 8(13), 1999, pp. 2479-2488
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
Authors: Gecz, J Baker, E Donnelly, A Ming, JE McDonald-McGinn, DM Spinner, NB Zackai, EH Sutherland, GR Mulley, JC
Citation: J. Gecz et al., Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient, HUM GENET, 104(1), 1999, pp. 56-63
Risultati: 1-7 |