Search Results - "Bamshad, M"

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

“…The short‐rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were…”
Get full text

Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension by Wallace, S., Guo, D.-C., Regalado, E., Mellor-Crummey, L., Bamshad, M., Nickerson, D.A., Dauser, R., Hanchard, N., Marom, R., Martin, E., Berka, V., Sharina, I., Ganesan, V., Saunders, D., Morris, S.A., Milewicz, D.M.

“…Moyamoya disease (MMD) is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and…”
Get full text

A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family by Khan, S., Ansar, M., Khan, A. K., Shah, K., Muhammad, N., Shahzad, S., Nickerson, D.A., Bamshad, M.J., Santos‐Cortez, R.L.P., Leal, S.M., Ahmad, W.

Get full text

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections by Regalado, E.S., Guo, D.C., Santos-Cortez, R.L.P., Hostetler, E., Bensend, T.A., Pannu, H., Estrera, A., Safi, H., Mitchell, A.L., Evans, J.P., Leal, S.M., Bamshad, M., Shendure, J., Nickerson, D.A., Milewicz, D.M.

“…Marfan syndrome (MFS) due to mutations in FBN1 is a known cause of thoracic aortic aneurysms and acute aortic dissections (TAAD) associated with pleiotropic…”
Get full text

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

“…Abstract Introduction: Habitual short sleep duration is associated with adverse metabolic, cardiovascular, and inflammatory effects. Co-twin study…”
Get full text

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

“…We report a comparison of worldwide genetic variation among 255 individuals by using autosomal, mitochondrial, and Y-chromosome polymorphisms. Variation is…”
Get full text

Genetic Evidence on the Origins of Indian Caste Populations by Bamshad, M.

Get full text

Variants regulating ZBTB4 are associated with age‐at‐onset of Alzheimer's disease by Blue, E. E., Yu, C.‐E., Thornton, T. A., Chapman, N. H., Kernfeld, E., Jiang, N., Shively, K. M., Buckingham, K. J., Marvin, C. T., Bamshad, M. J., Bird, T. D., Wijsman, E. M.

“…The identification of novel genetic modifiers of age‐at‐onset (AAO) of Alzheimer's disease (AD) could advance our understanding of AD and provide novel…”
Get full text

Population genomics : a bridge from evolutionary history to genetic medicine by JORDE, L. B, WATKINS, W. S, BAMSHAD, M. J

“…Studies of human genetic variation are making contributions in several key areas. Evolutionary genetic studies yield critical clues about the histories of…”
Get full text

Patterns of Ancestral Human Diversity: An Analysis of Alu-Insertion and Restriction-Site Polymorphisms by 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.

“…We have analyzed 35 widely distributed, polymorphic Alu loci in 715 individuals from 31 world populations. The average frequency of Alu insertions (the derived…”
Get full text

Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate by Gillett, E S, Deutsch, G H, Bamshad, M J, McAdams, R M, Mann, P C

“…We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1 …”
Get full text

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

“…CYP1A2 is a cytochrome P450 gene that is involved in human physiological responses to a variety of drugs and toxins. To investigate the role of population…”
Get full text

Results of whole-genome analysis from National Children's Study (NCS) by Shendure, J, Eichler, E, Tabor, H, Bamshad, M, Nickerson, D, Murray, J, Specker, B, Swanson, J, Faustman, E.M

Get full text

The role of CDHR3 in susceptibility to otitis media by Hirsch, Scott D., Elling, Christina L., Bootpetch, Tori C., Scholes, Melissa A., Hafrén, Lena, Streubel, Sven-Olrik, Pine, Harold S., Wine, Todd M., Szeremeta, Wasyl, Prager, Jeremy D., Einarsdottir, Elisabet, Yousaf, Ayesha, Baschal, Erin E., Rehman, Sakina, Bamshad, Michael J., Nickerson, Deborah A., Riazuddin, Saima, Leal, Suzanne M., Ahmed, Zubair M., Yoon, Patricia J., Kere, Juha, Chan, Kenny H., Mattila, Petri S., Friedman, Norman R., Chonmaitree, Tasnee, Frank, Daniel N., Ryan, Allen F., Santos-Cortez, Regie Lyn P.

“…Otitis media (OM) is common in young children and can cause hearing loss and speech, language, and developmental delays. OM has high heritability; however,…”
Get full text

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish by Santos-Cortez, R. L. P., Lee, K., Giese, A. P., Ansar, M., Amin-Ud-Din, M., Rehn, K., Wang, X., Aziz, A., Chiu, I., Hussain Ali, R., Smith, J. D., Shendure, J., Bamshad, M., Nickerson, D. A., Ahmed, Z. M., Ahmad, W., Riazuddin, S., Leal, S. M.

Get full text

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome by Bamshad, Michael, Lin, Robert C, Law, David J, Watkins, W. Scott, Krakowiak, Patrycja A, Moore, Mary E, Franceschini, Piergiorgio, Lala, Roberto, Holmes, Lewis B, Gebuhr, Tom C, Bruneau, Benoit G, Schinzel, Albert, Seidman, J. G, Seidman, Christine E, Jorde, Lynn B

“…Ulnar-mammary syndrome is a rare pleiotropic disorder affecting limb, apocrine gland, tooth and genital development. We demonstrate that mutations in human…”
Get full text

Origins and affinities of modern humans : a comparison of mitochondrial and nuclear genetic data by 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

“…To test hypotheses about the origin of modern humans, we analyzed mtDNA sequences, 30 nuclear restriction-site polymorphisms (RSPs), and 30 tetranucleotide…”
Get full text

The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome by 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.M., Lin, R.C., Seidman, C.E., Seidman, J.G., Wallerstein, R., Moran, E., Sutphen, R., Campbell, C.E., Jorde, L.B.

“…Ulnar-mammary syndrome (UMS) is a pleiotropic disorder affecting limb, apocrine-gland, tooth, hair, and genital development. Mutations that disrupt the…”
Get full text

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome by Przylepa, Kelly A, Paznekas, William, Zhang, Minghuang, Golabi, Mahin, Bias, Wilma, Bamshad, Michael J, Carey, John C, Hall, Bryan D, Stevenson, Roger, Orlow, Seth J, Cohen Jr, M. Michael, Jabs, Ethylin Wang

“…Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis…”
Get full text

A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene by Tavormina, Patricia L., Bellus, Gary A., Webster, Melanie K., Bamshad, Michael J., Fraley, Alexander E., McIntosh, Iain, Szabo, Jinny, Jiang, Wen, Jabs, Ethylin W., Wilcox, William R., Wasmuth, John J., Donoghue, Daniel J., Thompson, Leslie M., Francomano, Clair A.

“…We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches…”
Get full text