Human Genetics,volume 120,issue 2  (09-2006)

Period of time： 2006年2期

Publisher： Springer Publishing Company

Founded in： 1913

Total resources： 46

ISSN： 0340-6717

Subject： Q3 Genetics

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Human Genetics,volume 120,issue 2

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Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing

By Ferenci Peter in (2006)

Human Genetics,volume 120,issue 2 , Vol. 120, Iss. 2, 2006-09 , pp. 151-159

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A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia

By Shifman Sagiv,Levit Anat,Chen Mao-Liang,Chen Chia-Hsiang,Bronstein Michal,Weizman Avraham,Yakir Benjamin,Navon Ruth,Darvasi Ariel in (2006)

Human Genetics,volume 120,issue 2 , Vol. 120, Iss. 2, 2006-09 , pp. 160-170

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

By Budny Bartlomiej,Chen Wei,Omran Heymut,Fliegauf Manfred,Tzschach Andreas,Wisniewska Marzena,Jensen Lars,Raynaud Martine,Shoichet Sarah,Badura Magda,Lenzner Steffen,Latos-Bielenska Anna,Ropers Hans-Hilger in (2006)

Human Genetics,volume 120,issue 2 , Vol. 120, Iss. 2, 2006-09 , pp. 171-178

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Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome

By Bartsch Oliver,Rasi Sasan,Delicado Alicia,Dyack Sarah,Neumann Luitgard,Seemanová Eva,Volleth Marianne,Haaf Thomas,Kalscheuer Vera in (2006)

Human Genetics,volume 120,issue 2 , Vol. 120, Iss. 2, 2006-09 , pp. 179-186

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Variants in the HEPSIN gene are associated with prostate cancer in men of European origin

By Pal Prodipto,Xi Huifeng,Kaushal Ritesh,Sun Guangyun,Jin Carol,Jin Li,Suarez Brian,Catalona William,Deka Ranjan in (2006)

Human Genetics,volume 120,issue 2 , Vol. 120, Iss. 2, 2006-09 , pp. 187-192

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A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array

By Holmes S.,Wentzell J.,Seixas A.,Callahan C.,Silveira I.,Ross C.,Margolis R. in (2006)

Human Genetics,volume 120,issue 2 , Vol. 120, Iss. 2, 2006-09 , pp. 193-200

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An angiotensin converting enzyme haplotype predicts survival in patients with end stage renal disease

By Wetmore James,Johansen Kirsten,Sen Saunak,Hung Adriana,Lovett David in (2006)

Human Genetics,volume 120,issue 2 , Vol. 120, Iss. 2, 2006-09 , pp. 201-210

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Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

By Eichers Erica,Abd-El-Barr Muhammad,Paylor Richard,Lewis Richard,Bi Weimin,Lin Xiaodi,Meehan Thomas,Stockton David,Wu Samuel,Lindsay Elizabeth,Justice Monica,Beales Philip,Katsanis Nicholas,Lupski James in (2006)

Human Genetics,volume 120,issue 2 , Vol. 120, Iss. 2, 2006-09 , pp. 211-226

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Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

By Ou Zhishuo,Jarmuż Małgorzata,Sparagana Steven,Michaud Jacques,Décarie Jean-Claude,Yatsenko Svetlana,Nowakowska Beata,Furman Patti,Shaw Chad,Shaffer Lisa,Lupski James,Chinault A.,Cheung Sau,Stankiewicz Paweł in (2006)

Human Genetics,volume 120,issue 2 , Vol. 120, Iss. 2, 2006-09 , pp. 227-237

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A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression

By Jiang Miao,Zhao Xiuli,Han Weitian,Bian Chaoying,Li Xuefu,Wang Ge,Ao Yang,Li Yunqing,Yi Dongxu,Zhe Yang,Lo Wilson,Zhang Xue,Li Jianxin in (2006)

Human Genetics,volume 120,issue 2 , Vol. 120, Iss. 2, 2006-09 , pp. 238-242

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