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Research Articles Flexing DNA: HMG-box proteins and their partners. M E Bianchi and M Beltrame PMCID: PMC1377627 Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy. J A Engelman, X Zhang, F Galbiati, D Volonte, F Sotgia, R G Pestell, C Minetti, P E Scherer, T Okamoto, and M P Lisanti PMCID: PMC1377628 The tumor-suppressor function of E-cadherin. H Semb and G Christofori PMCID: PMC1377629 Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. H H Dahl PMCID: PMC1377630 The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. J Loeffen, J Smeitink, R Triepels, R Smeets, M Schuelke, R Sengers, F Trijbels, B Hamel, R Mullaart, and L van den Heuvel PMCID: PMC1377631 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. V Tiranti, K Hoertnagel, R Carrozzo, C Galimberti, M Munaro, M Granatiero, L Zelante, P Gasparini, R Marzella, M Rocchi, M P Bayona-Bafaluy, J A Enriquez, G Uziel, E Bertini, C Dionisi-Vici, B Franco, T Meitinger, and M Zeviani PMCID: PMC1377632 Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. M Honsho, S Tamura, N Shimozawa, Y Suzuki, N Kondo, and Y Fujiki PMCID: PMC1377633 Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. S Jacquot, K Merienne, D De Cesare, S Pannetier, J L Mandel, P Sassone-Corsi, and A Hanauer PMCID: PMC1377634 Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. H Mehenni, C Gehrig, J Nezu, A Oku, M Shimane, C Rossier, N Guex, J L Blouin, H S Scott, and S E Antonarakis PMCID: PMC1377635 Mutation analysis of LMX1B gene in nail-patella syndrome patients. I McIntosh, S D Dreyer, M V Clough, J A Dunston, W Eyaid, C M Roig, T Montgomery, S Ala-Mello, I Kaitila, A Winterpacht, B Zabel, M Frydman, W G Cole, C A Francomano, and B Lee PMCID: PMC1377636 Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. S Ikegawa, G Nishimura, T Nagai, T Hasegawa, H Ohashi, and Y Nakamura PMCID: PMC1377637 Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? J R Forbes and D W Cox PMCID: PMC1377638 A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. S H Pearce, T Cheetham, H Imrie, B Vaidya, N D Barnes, R W Bilous, D Carr, K Meeran, N J Shaw, C S Smith, A D Toft, G Williams, and P Kendall-Taylor PMCID: PMC1377639 The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. N A Ellis, S Ciocci, M Proytcheva, D Lennon, J Groden, and J German PMCID: PMC1377640 Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. J T Wang, C J Lin, S M Burridge, G K Fu, M Labuda, A A Portale, and W L Miller PMCID: PMC1377641 Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. R A Montgomery, M T Geraghty, E Bull, B D Gelb, M Johnson, I McIntosh, C A Francomano, and H C Dietz PMCID: PMC1377642 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. D W Parsons, P E McAndrew, S T Iannaccone, J R Mendell, A H Burghes, and T W Prior PMCID: PMC1377643 The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster. M Vollmer, M Jung, F Rüschendorf, R Ruf, T Wienker, A Reis, R Krapf, and F Hildebrandt PMCID: PMC1377644 Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. H Feit, A Silbergleit, L B Schneider, J A Gutierrez, R P Fitoussi, C Réyès, G A Rouleau, B Brais, C E Jackson, J S Beckmann, and E Seboun PMCID: PMC1377645 A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2. F Canzian, P Amati, H R Harach, J L Kraimps, F Lesueur, J Barbier, P Levillain, G Romeo, and D Bonneau PMCID: PMC1377646 A new Graves disease-susceptibility locus maps to chromosome 20q11.2. International Consortium for the Genetics of Autoimmune Thyroid Disease. Y Tomer, G Barbesino, D A Greenberg, E Concepcion, and T F Davies PMCID: PMC1377647 Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. A R Zinn, V S Tonk, Z Chen, W L Flejter, H A Gardner, R Guerra, H Kushner, S Schwartz, V P Sybert, D L Van Dyke, and J L Ross PMCID: PMC1377648 Association and linkage of the dopamine transporter gene and attention-deficit hyperactivity disorder in children: heterogeneity owing to diagnostic subtype and severity. I D Waldman, D C Rowe, A Abramowitz, S T Kozel, J H Mohr, S L Sherman, H H Cleveland, M L Sanders, J M Gard, and C Stever PMCID: PMC1377649 Search for a founder mutation in idiopathic focal dystonia from Northern Germany. C Klein, L J Ozelius, J Hagenah, X O Breakefield, N J Risch, and P Vieregge PMCID: PMC1377650 Strategies for rare-event detection: an approach for automated fetal cell detection in maternal blood. J C Oosterwijk, C F Knepflé, W E Mesker, H Vrolijk, W C Sloos, H Pattenier, I Ravkin, G J van Ommen, H H Kanhai, and H J Tanke PMCID: PMC1377651 European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA. M E Hurles, C Irven, J Nicholson, P G Taylor, F R Santos, J Loughlin, M A Jobling, and B C Sykes PMCID: PMC1377652 Genetic evidence for the proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes. T Melton, S Clifford, J Martinson, M Batzer, and M Stoneking PMCID: PMC1377653 Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations. D Comas, F Calafell, E Mateu, A Pérez-Lezaun, E Bosch, R Martínez-Arias, J Clarimon, F Facchini, G Fiori, D Luiselli, D Pettener, and J Bertranpetit PMCID: PMC1377654 Estimating African American admixture proportions by use of population-specific alleles. E J Parra, A Marcini, J Akey, J Martinson, M A Batzer, R Cooper, T Forrester, D B Allison, R Deka, R E Ferrell, and M D Shriver PMCID: PMC1377655 mtDNA haplogroup X: An ancient link between Europe/Western Asia and North America? M D Brown, S H Hosseini, A Torroni, H J Bandelt, J C Allen, T G Schurr, R Scozzari, F Cruciani, and D C Wallace PMCID: PMC1377656 Characterization of ancestral and derived Y-chromosome haplotypes of New World native populations. N O Bianchi, C I Catanesi, G Bailliet, V L Martinez-Marignac, C M Bravi, L B Vidal-Rioja, R J Herrera, and J S López-Camelo PMCID: PMC1377657 Genome screens using linkage disequilibrium tests: optimal marker characteristics and feasibility. N H Chapman and E M Wijsman PMCID: PMC1377658 A discordant-sibship test for disequilibrium and linkage: no need for parental data. S Horvath and N M Laird PMCID: PMC1377659 Letters Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghosts. N Shimozawa, Y Suzuki, Z Zhang, A Imamura, N Kondo, N Kinoshita, Y Fujiki, T Tsukamoto, T Osumi, T Imanaka, T Orii, F Beemer, P Mooijer, C Dekker, and R J Wanders PMCID: PMC1377660 Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis. F L Munier, F Thonney, A Girardet, A Balmer, M Claustre, F Pellestor, A Senn, G Pescia, and D F Schorderet PMCID: PMC1377661 Genetic counseling and prenatal diagnosis for mtDNA disease. P F Chinnery, N Howell, R N Lightowlers, and D M Turnbull PMCID: PMC1377662 Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism. D J Stavropoulos, D Bick, and D K Kalousek PMCID: PMC1377663 The sib transmission/disequilibrium test is a Mantel-Haenszel test. N M Laird, D Blacker, and M Wilcox PMCID: PMC1377664
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