Resultados de procura - Bamshad, M

A New Distal Arthrogryposis Syndrome Characterized by Plantar Flexion Contractures por Stevenson, D.A., Swoboda, K.J., Sanders, R.K., Bamshad, M.

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Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. por O'Quinn, J R, Hennekam, R C, Jorde, L B, Bamshad, M

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Signatures of population expansion in microsatellite repeat data. por Kimmel, M, Chakraborty, R, King, J P, Bamshad, M, Watkins, W S, Jorde, L B

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DNA Sequence Variation in a 3.7-kb Noncoding Sequence 5′ of the CYP1A2 Gene: Implications for Human Population History and Natural Selection por Wooding, S. P., Watkins, W. S., Bamshad, M. J., Dunn, D. M., Weiss, R. B., Jorde, L. B.

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Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type por Badiner, N., Taylor, S.P., Forlenza, K., Lachman, R. S., Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.

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Transcriptional Signatures of Sleep Duration Discordance in Monozygotic Twins por Watson, NF, Buchwald, D, Delrow, JJ, Altemeier, WA, Vitiello, MV, Pack, AI, Bamshad, M, Noonan, C, Gharib, SA

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The Distribution of Human Genetic Diversity: A Comparison of Mitochondrial, Autosomal, and Y-Chromosome Data por Jorde, L. B., Watkins, W. S., Bamshad, M. J., Dixon, M. E., Ricker, C. E., Seielstad, M. T., Batzer, M. A.

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A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. por Krakowiak, P A, O'Quinn, J R, Bohnsack, J F, Watkins, W S, Carey, J C, Jorde, L B, Bamshad, M

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A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. por Bamshad, M., Watkins, W. S., Zenger, R. K., Bohnsack, J. F., Carey, J. C., Otterud, B., Krakowiak, P. A., Robertson, M., Jorde, L. B.

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Patterns of Ancestral Human Diversity: An Analysis of Alu-Insertion and Restriction-Site Polymorphisms por Watkins, W. S., Ricker, C. E., Bamshad, M. J., Carroll, M. L., Nguyen, S. V., Batzer, M. A., Harpending, H. C., Rogers, A. R., Jorde, L. B.

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Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data. por Jorde, L B, Bamshad, M J, Watkins, W S, Zenger, R, Fraley, A E, Krakowiak, P A, Carpenter, K D, Soodyall, H, Jenkins, T, Rogers, A R

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High polymorphism at the human melanocortin 1 receptor locus. por Rana, B K, Hewett-Emmett, D, Jin, L, Chang, B H, Sambuughin, N, Lin, M, Watkins, S, Bamshad, M, Jorde, L B, Ramsay, M, Jenkins, T, Li, W H

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A Homozygous Missense Mutation in SLC25A16 is Associated with Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family por Khan, S., Ansar, M., Khan, A. Kamal, Shah, K., Muhammad, N., Shahzad, S., Nickerson, D.A., Bamshad, M.J., Santos-Cortez, R.L.P., Leal, S.M., Ahmad, W.

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A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families por Ahmad, F., Ansar, M., Mehmood, S., Izoduwa, A., Lee, K., Nasir, A., Abrar, M., Mehmood, S., Ullah, A., Aziz, A., Smith, J.D., Shendure, J., Bamshad, M.J., Nicekrson, D.A., Santos-Cortez, R.L.P., Leal, S.M., Ahmad, W.

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A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. por Tavormina, P L, Bellus, G A, Webster, M K, Bamshad, M J, Fraley, A E, McIntosh, I, Szabo, J, Jiang, W, Jabs, E W, Wilcox, W R, Wasmuth, J J, Donoghue, D J, Thompson, L M, Francomano, C A

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The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. por Bamshad, M, Le, T, Watkins, W S, Dixon, M E, Kramer, B E, Roeder, A D, Carey, J C, Root, S, Schinzel, A, Van Maldergem, L, Gardner, R J, Lin, R C, Seidman, C E, Seidman, J G, Wallerstein, R, Moran, E, Sutphen, R, Campbell, C E, Jorde, L B

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