Search Results - "MEHDI, S. Q"

Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists by Sengupta, Sanghamitra, Zhivotovsky, Lev A., King, Roy, Mehdi, S.Q., Edmonds, Christopher A., Chow, Cheryl-Emiliane T., Lin, Alice A., Mitra, Mitashree, Sil, Samir K., Ramesh, A., Usha Rani, M.V., Thakur, Chitra M., Cavalli-Sforza, L. Luca, Majumder, Partha P., Underhill, Peter A.

“…Although considerable cultural impact on social hierarchy and language in South Asia is attributable to the arrival of nomadic Central Asian pastoralists,…”
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Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy by Hameed, A, Abid, A, Aziz, A, Ismail, M, Mehdi, S Q, Khaliq, S

“…Mutations in the ATP binding cassette transporter rim protein (ABCR) gene have been shown to be associated with autosomal recessive CRD. 15 Mutations in the…”
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Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases by Abid, A, Ismail, M, Mehdi, S Q, Khaliq, S

“…Semaphorins are a large family of transmembrane proteins. The gene for SEMA4A encodes a transmembrane protein comprising 760 amino acids. To investigate its…”
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Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism by Forshew, T, Khaliq, S, Tee, L, Smith, U, Johnson, C A, Mehdi, S Q, Maher, E R

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A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis by Walsh, D. M., Shah, S. H., Simpson, M. A., Morgan, N. V., Khaliq, S., Trembath, R. C., Mehdi, S. Q., Maher, E. R.

“…Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin…”
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Autosomal Recessive Non-Syndromic Deafness Locus (DFNB8) Maps on Chromosome 21Q22 in a Large Consanguineous Kindred from Pakistan by Veske, Andres, Oehlmann, Ralph, Younus, Farah, Mohyuddin, Aisha, Müller-Myhsok, Bertram, Qasim Mehdi, S., Gal, Andreas

“…Autosomal recessive childhood-onset non-syndromic deafness is one of the most frequent forms of inherited hearing impairment. Recently five different…”
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Locus for Autosomal Recessive Nonsyndromic Persistent Hyperplastic Primary Vitreous by Khaliq, Shagufta, Hameed, Abdul, Ismail, Muhammad, Anwar, Khalid, Leroy, Bart, Payne, Annette M, Bhattacharya, Shomi S, Mehdi, S. Qasim

“…To map the disease locus in a six-generation, consanguineous Pakistani family affected by nonsyndromic autosomal recessive persistent hyperplastic primary…”
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Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32 by Bessant, David A R, Anwar, Khalid, Khaliq, Shagufta, Hameed, Abdul, Ismail, M, Payne, Annette M, Mehdi, S Qasim, Bhattacharya, Shomi S

“…BACKGROUND Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia…”
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RP1 Protein Truncating Mutations Predominate at the RP1 adRP Locus by Payne, Annette, Vithana, Eranga, Khaliq, Shagufta, Hameed, Abdul, Deller, Jane, Abu-Safieh, Leen, Kermani, Sana, Leroy, Bart P, Mehdi, S. Qasim, Moore, Anthony T, Bird, Alan C, Bhattacharya, Shomi S

“…Recent reports have shown that the autosomal dominant retinitis pigmentosa (adRP) phenotype linked to the pericentric region of chromosome 8 is associated with…”
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Y chromosome sequence variation and the history of human populations by Cavalli-Sforza, L. Luca, Francalacci, Paolo, Jenkins, Trefor, Passarino, Giuseppe, Yang, Wei H, Davis, Ronald W, Bertranpetit, Jaume, Kauffman, Erin, Underhill, Peter A, Ibrahim, Muntaser, Jin, Li, Seielstad, Mark T, Piazza, Alberto, Kidd, Judith R, Wells, R. Spencer, Bonné-Tamir, Batsheva, Lin, Alice A, Feldman, Marcus W, Shen, Peidong, Mehdi, S. Qasim, Oefner, Peter. J

“…Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of our species that has…”
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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis by Daiger, Stephen P, Sohocki, Melanie M, Bowne, Sara J, Sullivan, Lori S, Blackshaw, Seth, Cepko, Constance L, Payne, Annette M, Bhattacharya, Shomi S, Khaliq, Shagufta, Qasim Mehdi, S, Birch, David G, Harrison, Wilbur R, Elder, Frederick F.B, Heckenlively, John R

“…Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the…”
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Network Analyses of Y-Chromosomal Types in Europe, Northern Africa, and Western Asia Reveal Specific Patterns of Geographic Distribution by Malaspina, Patrizia, Cruciani, Fulvio, Ciminelli, Bianca Maria, Terrenato, Luciano, Santolamazza, Piero, Alonso, Antonio, Banyko, Juraj, Brdicka, Radim, García, Oscar, Gaudiano, Carlo, Guanti, Ginevra, Kidd, Kenneth K., Lavinha, João, Avila, Madalena, Mandich, Paola, Moral, Pedro, Qamar, Raheel, Mehdi, Syed Q., Ragusa, Angela, Stefanescu, Gheorghe, Caraghin, Maria, Tyler-Smith, Chris, Scozzari, Rosaria, Novelletto, Andrea

“…In a study of 908 males from Europe, northern Africa, and western Asia, the variation of four Y-linked dinucleotide microsatellites was analyzed within three…”
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A New Locus for Autosomal Recessive RP (RP29) Mapping to Chromosome 4q32-q34 in a Pakistani Family by Hameed, Abdul, Khaliq, Shagufta, Ismail, Muhammad, Anwar, Khalid, Mehdi, S. Qasim, Bessant, David, Payne, Annette M, Bhattacharya, Shomi S

“…To map the disease locus in a six-generation, consanguineous Pakistani family with autosomal recessive retinitis pigmentosa (arRP). All affected individuals…”
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Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa by MALASPINA, P., CRUCIANI, F., SANTOLAMAZZA, P., TORRONI, A., PANGRAZIO, A., AKAR, N., BAKALLI, V., BRDICKA, R., JARUZELSKA, J., KOZLOV, A., MALYARCHUK, B., MEHDI, S. Q., MICHALODIMITRAKIS, E., VARESI, L., MEMMI, M. M., VONA, G., VILLEMS, R., PARIK, J., ROMANO, V., STEFAN, M., STENICO, M., TERRENATO, L., NOVELLETTO, A., SCOZZARI, R.

“…We typed 1801 males from 55 locations for the Y-specific binary markers YAP, DYZ3, SRY10831 and the (CA)n microsatellites YCAII and DYS413. Phylogenetic…”
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Y haplogroups and aggressive behavior in a Pakistani ethnic group by Shah, S. Shoaib, Ayub, Q., Firasat, S., Kaiser, F., Mehdi, S. Q.

“…Studies show that personality dimensions such as aggression are influenced by genetic factors and that allelic variants located on the Y chromosome influence…”
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Differential Structuring of Human Populations for Homologous X and Y Microsatellite Loci by Scozzari, Rosaria, Cruciani, Fulvio, Malaspina, Patrizia, Santolamazza, Piero, Ciminelli, Bianca Maria, Torroni, Antonio, Modiano, David, Wallace, Douglas C., Kidd, Kenneth K., Olckers, Antonel, Moral, Pedro, Terrenato, Luciano, Akar, Nejat, Qamar, Raheel, Mansoor, Atika, Mehdi, Syed Q., Meloni, Gianfranco, Vona, Giuseppe, Cole, David E.C., Cai, Wangwei, Novelletto, Andrea

“…The global pattern of variation at the homologous microsat-ellite loci DYS413 (Yq11) and DXS8174 and DXS8175 (Xp22) was analyzed by examination of 30 world…”
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HLA polymorphisms in ethnic groups from Pakistan by Mohyuddin, A., Ayub, Q., Qamar, R., Khaliq, S., Mansoor, A., Mehdi, S.Q.

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Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography by Underhill, P A, Jin, L, Lin, A A, Mehdi, S Q, Jenkins, T, Vollrath, D, Davis, R W, Cavalli-Sforza, L L, Oefner, P J

“…Y chromosome haplotypes are particularly useful in deciphering human evolutionary history because they accentuate the effects of drift, migration, and range…”
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Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness by Antonarakis, Stylianos E, Scott, Hamish S, Kudoh, Jun, Wattenhofer, Marie, Shibuya, Kazunori, Berry, Asher, Chrast, Roman, Guipponi, Michel, Wang, Jun, Kawasaki, Kazuhiko, Asakawa, Shuichi, Minoshima, Shinsei, Younus, Farah, Mehdi, S. Qasim, Radhakrishna, Uppala, Papasavvas, Marie-Pierre, Gehrig, Corinne, Rossier, Colette, Korostishevsky, Michael, Gal, Andreas, Shimizu, Nobuyoshi, Bonne-Tamir, Batsheva

“…Approximately 50% of childhood deafness is caused by mutations in specific genes. Autosomal recessive loci account for approximately 80% of nonsyndromic…”
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Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa by Khaliq, S, Abid, A, Ismail, M, Hameed, A, Mohyuddin, A, Lall, P, Aziz, A, Anwar, K, Mehdi, S Q

“…To date, approximately 40 loci and mutations in more than 25 genes have been identified as the cause of various types of RP. 1 The gene for human oxygen…”
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