Rezultati - Bamshad, M

A New Distal Arthrogryposis Syndrome Characterized by Plantar Flexion Contractures od 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. od O'Quinn, J R, Hennekam, R C, Jorde, L B, Bamshad, M

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Signatures of population expansion in microsatellite repeat data. od 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 od 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 od 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 od 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 od 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. od 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. od 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 od 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. od 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. od 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 od 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 od 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. od 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. od 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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