The Experts below are selected from a list of 22464 Experts worldwide ranked by ideXlab platform
Christine E. Seidman - One of the best experts on this subject based on the ideXlab platform.
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The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36
American journal of human genetics, 1998Co-Authors: José Faibes Lubianca Neto, Barbara Mcdonough, Roland D. Eavey, Marco Antonio Macias Flores, Raul Martinez Caldera, Somkiat Sangwatanaroj, Jean-jacques Schott, Jose Ignatio Santos, Christine E. SeidmanAbstract:We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of Sensorineural Hearing Loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual Sensorineural Hearing Loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at θ = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome.
José Faibes Lubianca Neto - One of the best experts on this subject based on the ideXlab platform.
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The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36
American journal of human genetics, 1998Co-Authors: José Faibes Lubianca Neto, Barbara Mcdonough, Roland D. Eavey, Marco Antonio Macias Flores, Raul Martinez Caldera, Somkiat Sangwatanaroj, Jean-jacques Schott, Jose Ignatio Santos, Christine E. SeidmanAbstract:We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of Sensorineural Hearing Loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual Sensorineural Hearing Loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at θ = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome.
Barbara Mcdonough - One of the best experts on this subject based on the ideXlab platform.
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The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36
American journal of human genetics, 1998Co-Authors: José Faibes Lubianca Neto, Barbara Mcdonough, Roland D. Eavey, Marco Antonio Macias Flores, Raul Martinez Caldera, Somkiat Sangwatanaroj, Jean-jacques Schott, Jose Ignatio Santos, Christine E. SeidmanAbstract:We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of Sensorineural Hearing Loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual Sensorineural Hearing Loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at θ = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome.
Jean-jacques Schott - One of the best experts on this subject based on the ideXlab platform.
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The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36
American journal of human genetics, 1998Co-Authors: José Faibes Lubianca Neto, Barbara Mcdonough, Roland D. Eavey, Marco Antonio Macias Flores, Raul Martinez Caldera, Somkiat Sangwatanaroj, Jean-jacques Schott, Jose Ignatio Santos, Christine E. SeidmanAbstract:We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of Sensorineural Hearing Loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual Sensorineural Hearing Loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at θ = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome.
Roland D. Eavey - One of the best experts on this subject based on the ideXlab platform.
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The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36
American journal of human genetics, 1998Co-Authors: José Faibes Lubianca Neto, Barbara Mcdonough, Roland D. Eavey, Marco Antonio Macias Flores, Raul Martinez Caldera, Somkiat Sangwatanaroj, Jean-jacques Schott, Jose Ignatio Santos, Christine E. SeidmanAbstract:We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of Sensorineural Hearing Loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual Sensorineural Hearing Loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage between the disease gene segregating in this kindred and D2S434 (maximum two-point LOD score = 4.98 at θ = 0). Haplotype analysis of recombination events located the disease gene in a 3-cM region between loci D2S1371 and D2S163. We speculate that intermediate filament and intermediate filament-associated proteins are good candidate genes for causing Bjornstad syndrome.
