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    1. Cordero, JF; Hamerton, JL; King, MC; Motulsky, AG; Pelias, MZ; Reilly, PR; Salomon, J; Schull, WJ; Spielman, RS; Ward, RH; Weitkamp, LR; Worton, RG
      Response to allegations against James V. Neel in Darkness in El Dorado, byPatrick Tierney

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Little, RD; Carulli, JP; Del Mastro, RG; Dupuis, J; Osborne, M; Folz, C; Manning, SP; Swain, PM; Zhao, SC; Eustace, B; Lappe, MM; Spitzer, L; Zweier, S; Braunschweiger, K; Benchekroun, Y; Hu, XT; Adair, R; Chee, L; FitzGerald, MG; Tulig, C; Caruso, A; Tzellas, N; Bawa, A; Franklin, B; McGuire, S; Nogues, X; Gong, G; Allen, KM; Anisowicz, A; Morales, AJ; Lomedico, PT; Recker, SM; Van Eerdewegh, P; Recker, RR; Johnson, ML
      A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

      AMERICAN JOURNAL OF HUMAN GENETICS
    3. Holzinger, A; Maier, EM; Buck, C; Mayerhofer, PU; Kappler, M; Haworth, JC; Moroz, SP; Hadorn, HB; Sadler, JE; Roscher, AA
      Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    4. Berends, MJW; Wu, Y; Sijmons, RH; Mensink, RGJ; van der Sluis, T; Hordijk-Hos, JM; de Vries, EGE; Hollema, H; Karrenbeld, A; Buys, CHCM; van der Zee, AGJ; Hofstra, RMW; Kleibeuker, JH
      Molecular and clinical characteristics of MSH6 variants: An analysis of 25index carriers of a germline variant

      AMERICAN JOURNAL OF HUMAN GENETICS
    5. Mukhopadhyay, D; Anant, S; Lee, RM; Kennedy, S; Viskochil, D; Davidson, NO
      C -> U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme

      AMERICAN JOURNAL OF HUMAN GENETICS
    6. Liu, JJ; Juo, SH; Holopainen, P; Terwilliger, J; Tong, XM; Grunn, A; Brito, M; Green, P; Mustalahti, K; Maki, M; Gilliam, TC; Partanen, J
      Genomewide linkage analysis of celiac disease in Finnish families

      AMERICAN JOURNAL OF HUMAN GENETICS
    7. Alarcon, M; Cantor, RM; Liu, JJ; Gilliam, TC; Geschwind, DH
      Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families

      AMERICAN JOURNAL OF HUMAN GENETICS
    8. Feitosa, MF; Borecki, IB; Rich, SS; Arnett, DK; Sholinsky, P; Myers, RH; Leppert, M; Province, MA
      Quantitative-trait loci influencing body-mass index reside on chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study

      AMERICAN JOURNAL OF HUMAN GENETICS
    9. Bailey, JA; Yavor, AM; Viggiano, L; Misceo, D; Horvath, JE; Archidiacono, N; Schwartz, S; Rocchi, M; Eichler, EE
      Human-specific duplication and mosaic transcripts: The recent paralogous structure of chromosome 22

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. DeWan, AT; Parrado, AR; Matise, TC; Leal, SM
      The map problem: A comparison of genetic and sequence-based physical maps

      AMERICAN JOURNAL OF HUMAN GENETICS
    11. Nakajima, T; Jorde, LB; Ishigami, T; Umemura, S; Emi, M; Lalouel, JM; Inoue, I
      Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. Cordell, HJ; Clayton, DG
      A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: Application to HLA in type 1 diabetes

      AMERICAN JOURNAL OF HUMAN GENETICS
    13. Haghighi, F; Hodge, SE
      Likelihood formulation of parent-of-origin effects on segregation analysis, including ascertainment

      AMERICAN JOURNAL OF HUMAN GENETICS
    14. Niu, TH; Qin, ZHS; Xu, XP; Liu, JS
      Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms

      AMERICAN JOURNAL OF HUMAN GENETICS
    15. Sieberts, SK; Wijsman, EM; Thompson, EA
      Relationship inference from trios of individuals, in the presence of typing error

      AMERICAN JOURNAL OF HUMAN GENETICS
    16. Song, KK; Feingold, E; Weeks, DE
      Statistics for nonparametric linkage analysis of X-linked traits in general pedigrees

      AMERICAN JOURNAL OF HUMAN GENETICS
    17. Lell, JT; Sukernik, RI; Starikovskaya, YB; Su, B; Jin, L; Schurr, TG; Underhill, PA; Wallace, DC
      The dual origin and Siberian affinities of native American Y chromosomes

      AMERICAN JOURNAL OF HUMAN GENETICS
    18. Currat, M; Trabuchet, G; Rees, D; Perrin, P; Harding, RM; Clegg, JB; Langaney, A; Excoffier, L
      Molecular analysis of the beta-globin gene cluster in the niokholo mandenka population reveals a recent origin of the beta(S) senegal mutation

      AMERICAN JOURNAL OF HUMAN GENETICS
    19. Thompson, DA; McHenry, CL; Li, Y; Richards, JE; Othman, MI; Schwinger, E; Vollrath, D; Jacobson, SG; Gal, A
      Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome2, with homoallelism for mutations in RPE65 or MERTK, respectively

      AMERICAN JOURNAL OF HUMAN GENETICS
    20. Howard, TD; Koppelman, GH; Xu, JF; Zheng, SQL; Postma, DS; Meyers, DA; Bleecker, ER
      Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population withasthma

      AMERICAN JOURNAL OF HUMAN GENETICS
    21. Mayeux, R; Lee, JH; Romas, SN; Mayo, D; Santana, V; Williamson, J; Ciappa, A; Rondon, HZ; Estevez, P; Lantigua, R; Medrano, M; Torres, M; Stern, Y; Tycko, B; Knowles, JA
      Chromosome-12 mapping of late-onset Alzheimer disease among Caribbean Hispanics

      AMERICAN JOURNAL OF HUMAN GENETICS
    22. Street, VA; Goldy, JD; Golden, AS; Tempel, BL; Bird, TD; Chance, PF
      Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies

      AMERICAN JOURNAL OF HUMAN GENETICS
    23. Hand, CK; Khoris, J; Salachas, F; Gros-Louis, F; Lopes, AAS; Mayeux-Portas, V; Brown, RH; Meininger, V; Camu, W; Rouleau, GA
      A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. Mateu, E; Calafell, F; Ramos, MD; Casals, T; Bertranpetit, J
      Can a place of origin of the main cystic fibrosis mutations be identified?

      AMERICAN JOURNAL OF HUMAN GENETICS
    25. Semino, O; Santachiara-Benerecetti, AS; Falaschi, F; Sforza, LLC; Underhill, PA
      Ethiopians and Khoisan share the deepest clades of the human Y-chromosome phylogeny

      AMERICAN JOURNAL OF HUMAN GENETICS
    26. van Geel, M; Eichler, EE; Beck, AF; Shan, ZH; Haaf, T; van der Maarel, SM; Frants, RR; de Jong, PJ
      A cascade of complex subtelomeric duplications during the evolution of thehominoid and old world monkey genomes

      AMERICAN JOURNAL OF HUMAN GENETICS
    27. Hamblin; Di Rienzo
      Detection of the signature of natural selection in humans: Evidence from the Duffy Blood Group Locus (vol 66, pg 1669, 2000)

      AMERICAN JOURNAL OF HUMAN GENETICS
    28. Ehm
      Genomewide search for type 2 diabetes susceptibility genes in four American populations (vol 66, pg 1871, 2000)

      AMERICAN JOURNAL OF HUMAN GENETICS
    29. Ober
      The genetic dissection of complex traits in a founder population (vol 69, pg 1068, 2001)

      AMERICAN JOURNAL OF HUMAN GENETICS
    30. Hegele, RA
      Monogenic dyslipidemias: Window on determinants of plasma lipoprotein metabolism

      AMERICAN JOURNAL OF HUMAN GENETICS
    31. Yamada, K; Yamada, Y; Nomura, N; Miura, K; Wakako, R; Hayakawa, C; Matsumoto, A; Kumagai, T; Yoshimura, I; Miyazaki, S; Kato, K; Sonta, S; Ono, H; Yamanaka, T; Nagaya, M; Wakamatsu, N
      Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

      AMERICAN JOURNAL OF HUMAN GENETICS
    32. Gimenez-Roqueplo, AP; Favier, J; Rustin, P; Mourad, JJ; Plouin, PF; Corvol, P; Rotig, A; Jeunemaitre, X
      The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

      AMERICAN JOURNAL OF HUMAN GENETICS
    33. Brockington, M; Blake, DJ; Prandini, P; Brown, SC; Torelli, S; Benson, MA; Ponting, CP; Estournet, B; Romero, NB; Mercuri, E; Voit, T; Sewry, CA; Guicheney, P; Muntoni, F
      Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan

      AMERICAN JOURNAL OF HUMAN GENETICS
    34. Kenwrick, S; Woffendin, H; Jakins, T; Shuttleworth, SG; Mayer, E; Greenhalgh, L; Whittaker, J; Rugolotto, S; Bardaro, T; Esposito, T; D'Urso, M; Soli, F; Turco, A; Smahi, A; Hamel-Teillac, D; Lyonnet, S; Bonnefont, JP; Munnich, A; Aradhya, S; Kashork, CD; Shaffer, LG; Nelson, DL; Levy, M; Lewis, RA
      Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    35. Anikster, Y; Kleta, R; Shaag, A; Gahl, WA; Elpeleg, O
      Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews

      AMERICAN JOURNAL OF HUMAN GENETICS
    36. Mead, S; Mahal, SP; Beck, J; Campbell, T; Farrall, M; Fisher, E; Collinge, J
      Sporadic - but not variant - Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP Exon 1

      AMERICAN JOURNAL OF HUMAN GENETICS
    37. Tsai, HJ; Sun, GY; Weeks, DE; Kaushal, R; Wolujewicz, M; McGarvey, ST; Tufa, J; Viali, S; Deka, R
      Type 2 diabetes and three Calpain-10 gene polymorphisms in Samoans: No evidence of association

      AMERICAN JOURNAL OF HUMAN GENETICS
    38. Robinson, WP; McFadden, DE; Stephenson, MD
      The origin of abnormalities in recurrent aneuploidy/polyploidy

      AMERICAN JOURNAL OF HUMAN GENETICS
    39. Li, JM; Sherman, SL; Lamb, N; Zhao, HY
      Multipoint genetic mapping with trisomy data

      AMERICAN JOURNAL OF HUMAN GENETICS
    40. Desautels, A; Turecki, G; Montplaisir, J; Sequeira, A; Verner, A; Rouleau, GA
      Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q

      AMERICAN JOURNAL OF HUMAN GENETICS
    41. Xu, X; Fang, Z; Wang, BY; Chen, CZ; Guang, WW; Jin, YT; Yang, JH; Lewitzky, S; Aelony, A; Parker, A; Meyer, J; Weiss, ST; Xu, XP
      A genomewide search for quantitative-trait loci underlying asthma

      AMERICAN JOURNAL OF HUMAN GENETICS
    42. Camp, NJ; Neuhausen, SL; Tiobech, J; Polloi, A; Coon, H; Myles-Worsley, M
      Genomewide multipoint linkage analysis of seven extended Palauan pedigreeswith schizophrenia, by a Markov-chain Monte Carlo method

      AMERICAN JOURNAL OF HUMAN GENETICS
    43. Uhl, GR; Liu, QR; Walther, D; Hess, J; Naiman, D
      Polysubstance abuse-vulnerability genes: Genome scans for association, using 1,004 subjects and 1,494 single-nucleotide polymorphisms

      AMERICAN JOURNAL OF HUMAN GENETICS
    44. Holm, P; Julier, C; Kockum, I; Senee, V; Blanc, H; Papp, J; Akesson, K; Bartsocas, C; de Leiva, A; Dahlquist, G; Ronningen, KS; Lathrop, M; Luthman, H; Pociot, F; Nerup, J
      A genomewide scan for type 1-diabetes susceptibility in Scandinavian families: Identification of new loci with evidence of interactions

      AMERICAN JOURNAL OF HUMAN GENETICS
    45. Gresham, D; Morar, B; Underhill, PA; Passarino, G; Lin, AA; Wise, C; Angelicheva, D; Calafell, F; Oefner, PJ; Shen, PD; Tournev, I; de Pablo, R; Kucinskas, V; Perez-Lezaun, A; Marushiakova, E; Popov, V; Kalaydjieva, L
      Origins and divergence of the Roma (Gypsies)

      AMERICAN JOURNAL OF HUMAN GENETICS
    46. Wakeley, J; Nielsen, R; Liu-Cordero, SN; Ardlie, K
      The discovery of single-nucleotide polymorphisms - and inferences about human demographic history

      AMERICAN JOURNAL OF HUMAN GENETICS
    47. Torroni, A; Rengo, C; Guida, V; Cruciani, F; Sellitto, D; Coppa, A; Calderon, FL; Simionati, B; Valle, G; Richards, M; Macaulay, V; Scozzari, R
      Do the four clades of the mtDNA haplogroup L2 evolve at different rates?

      AMERICAN JOURNAL OF HUMAN GENETICS
    48. Goring, HHH; Terwilliger, JD; Blangero, J
      Large upward bias in estimation of locus-specific effects from genomewide scans

      AMERICAN JOURNAL OF HUMAN GENETICS
    49. Amiel, J; Espinosa-Parrilla, Y; Steffann, J; Gosset, P; Pelet, A; Prieur, M; Boute, O; Choiset, A; Lacombe, D; Philip, N; Le Merrer, M; Tanaka, H; Till, M; Touraine, R; Toutain, A; Vekemans, M; Munnich, A; Lyonnet, S
      Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures

      AMERICAN JOURNAL OF HUMAN GENETICS
    50. Lahat, H; Pras, E; Olender, T; Avidan, N; Ben-Asher, E; Man, O; Levy-Nissenbaum, E; Khoury, A; Lorber, A; Goldman, B; Lancet, D; Eldar, M
      A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

      AMERICAN JOURNAL OF HUMAN GENETICS
    51. Moore, RC; Xiang, FQ; Monaghan, J; Han, D; Zhang, ZP; Edstrom, L; Anvret, M; Prusiner, SB
      Huntington disease phenocopy is a familial prion disease

      AMERICAN JOURNAL OF HUMAN GENETICS
    52. Xin, ZH; Allis, CD; Wagstaff, J
      Parent-specific complementary patterns of histone H3 lysine 9 and H3 lysine 4 methylation at the Prader-Willi syndrome imprinting center

      AMERICAN JOURNAL OF HUMAN GENETICS
    53. Kaufmann, D; Muller, R; Bartelt, B; Wolf, M; Kunzi-Rapp, K; Hanemann, CO; Fahsold, R; Hein, C; Vogel, W; Assum, G
      Spinal neurofibromatosis without cafe-au-lait macules in two families withnull mutations of the NF1 gene

      AMERICAN JOURNAL OF HUMAN GENETICS
    54. Nath, SK; Kelly, JA; Namjou, B; Lam, T; Bruner, GR; Scofield, RH; Aston, CE; Harley, JB
      Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in familieswith vitiligo-related systemic lupus erythematosus

      AMERICAN JOURNAL OF HUMAN GENETICS
    55. Svenson, IK; Ashley-Koch, AE; Pericak-Vance, MA; Marchuk, DA
      A second leaky splice-site mutation in the spastin gene

      AMERICAN JOURNAL OF HUMAN GENETICS
    56. Le Saux; Marais, AS; Viljoen, DL
      A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum (vol 69, pg 749, 2001)

      AMERICAN JOURNAL OF HUMAN GENETICS
    57. Altmuller
      Genomewide scans in complex human diseases: True linkage is hard to find (vol 69, pg 936, 2001)

      AMERICAN JOURNAL OF HUMAN GENETICS
    58. Rodriguez
      Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation (vol 69, pg 1134, 2001)

      AMERICAN JOURNAL OF HUMAN GENETICS
    59. Resendes, BL; Williamson, RE; Morton, CC
      At the speed of sound: Gene discovery in the auditory system

      AMERICAN JOURNAL OF HUMAN GENETICS
    60. Altmuller, J; Palmer, LJ; Fischer, G; Scherb, H; Wjst, M
      Genomewide scans of complex human diseases: True linkage is hard to find

      AMERICAN JOURNAL OF HUMAN GENETICS
    61. Migeon, BR; Chowdhury, AK; Dunston, JA; McIntosh, I
      Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: Implications for X inactivation

      AMERICAN JOURNAL OF HUMAN GENETICS
    62. Machinis, K; Pantel, J; Netchine, I; Leger, J; Camand, OJA; Sobrier, ML; Dastot-Le Moal, F; Duquesnoy, P; Abitbol, M; Czernichow, P; Amselem, S
      Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4

      AMERICAN JOURNAL OF HUMAN GENETICS
    63. Czarny-Ratajczak, M; Lohiniva, J; Rogala, P; Kozlowski, K; Perala, M; Carter, L; Spector, TD; Kolodziej, L; Seppanen, U; Glazar, R; Krolewski, J; Latos-Bielenska, A; Ala-Kokko, L
      A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity

      AMERICAN JOURNAL OF HUMAN GENETICS
    64. Newton, JM; Cohen-Barak, O; Hagiwara, N; Gardner, JM; Davisson, MT; King, RA; Brilliant, MH
      Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

      AMERICAN JOURNAL OF HUMAN GENETICS
    65. Schwarze, U; Schievink, WI; Petty, E; Jaff, MR; Babovic-Vuksanovic, D; Cherry, KJ; Pepin, M; Byers, PH
      Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV

      AMERICAN JOURNAL OF HUMAN GENETICS
    66. Lefevre, C; Jobard, F; Caux, F; Bouadjar, B; Karaduman, A; Heilig, R; Lakhdar, H; Wollenberg, A; Verret, JL; Weissenbach, J; Ozguc, M; Lathrop, M; Prud'homme, JF; Fischer, J
      Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    67. Millat, G; Chikh, K; Naureckiene, S; Sleat, DE; Fensom, AH; Higaki, K; Elleder, M; Lobel, P; Vanier, MT
      Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

      AMERICAN JOURNAL OF HUMAN GENETICS
    68. Huizing, M; Anikster, Y; Fitzpatrick, DL; Jeong, AB; D'Souza, M; Rausche, M; Toro, JR; Kaiser-Kupfer, MI; White, JG; Gahl, WA
      Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    69. Heath, KE; Campos-Barros, A; Toren, A; Rozenfeld-Granot, G; Carlsson, LE; Savige, J; Denison, JC; Gregory, MC; White, JG; Barker, DF; Greinacher, A; Epstein, CJ; Glucksman, MJ; Martignetti, JA
      Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes

      AMERICAN JOURNAL OF HUMAN GENETICS
    70. Lowe, X; Eskenazi, B; Nelson, DO; Kidd, S; Alme, A; Wyrobek, AJ
      Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    71. Hocking, LJ; Herbert, CA; Nicholls, RK; Williams, F; Bennett, ST; Cundy, T; Nicholson, GC; Wuyts, W; Van Hul, W; Ralston, SH
      Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35

      AMERICAN JOURNAL OF HUMAN GENETICS
    72. Greenberg, DA; Hodge, SE; Sowinski, J; Nicoll, D
      Excess of twins among affected sibling pairs with autism: Implications forthe etiology of autism

      AMERICAN JOURNAL OF HUMAN GENETICS
    73. Ober, C; Abney, M; McPeek, MS
      The genetic dissection of complex traits in a founder population

      AMERICAN JOURNAL OF HUMAN GENETICS
    74. Smith, MW; Lautenberger, JA; Shin, HD; Chretien, JP; Shrestha, S; Gilbert, DA; O'Brien, SJ
      Markers for mapping by admixture linkage disequilibrium in African American and Hispanic populations

      AMERICAN JOURNAL OF HUMAN GENETICS
    75. Nebel, A; Filon, D; Brinkmann, B; Majumder, PP; Faerman, M; Oppenheim, A
      The y chromosome pool of Jews as part of the genetic landscape of the Middle East

      AMERICAN JOURNAL OF HUMAN GENETICS
    76. Heyer, E; Zietkiewicz, E; Rochowski, A; Yotova, V; Puymirat, J; Labuda, D
      Phylogenetic and familial estimates of mitochondrial substitution rates: Study of control region mutations in deep-rooting pedigrees

      AMERICAN JOURNAL OF HUMAN GENETICS
    77. Item, CB; Stockler-Ipsiroglu, S; Stromberger, C; Muhl, A; Alessandri, MG; Bianchi, MC; Tosetti, M; Fornai, F; Cioni, G
      Arginine : glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans

      AMERICAN JOURNAL OF HUMAN GENETICS
    78. Rodriguez, D; Gauthier, F; Bertini, E; Bugiani, M; Brenner, M; N'guyen, S; Goizet, C; Gelot, A; Surtees, R; Pedespan, JM; Hernandorena, X; Troncoso, M; Uziel, G; Messing, A; Ponsot, G; Pham-Dinh, D; Dautigny, A; Boespflug-Tanguy, O
      Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation

      AMERICAN JOURNAL OF HUMAN GENETICS
    79. Berry, V; Francis, P; Reddy, MA; Collyer, D; Vithana, E; MacKay, I; Dawson, G; Carey, AH; Moore, A; Bhattacharya, SS; Quinlan, RA
      Alpha-b crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

      AMERICAN JOURNAL OF HUMAN GENETICS
    80. Newman, DL; Abney, M; McPeek, MS; Ober, C; Cox, NJ
      The importance of genealogy in determining genetic associations with complex traits

      AMERICAN JOURNAL OF HUMAN GENETICS
    81. Elston, RC
      Reporting of linkage results

      AMERICAN JOURNAL OF HUMAN GENETICS
    82. Volcik, KA; Blanton, SH; Northrup, H
      Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - and in utero viability

      AMERICAN JOURNAL OF HUMAN GENETICS
    83. Donnelly, JG; Isotalo, PA
      Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - and in utero viability - Reply

      AMERICAN JOURNAL OF HUMAN GENETICS

    84. The American Society of Human Genetics - 51st annual meeting - October 12-16, 2001 - San Diego, California - Abstracts

      AMERICAN JOURNAL OF HUMAN GENETICS
    85. Joensuu, T; Hamalainen, R; Yuan, B; Johnson, C; Tegelberg, S; Gasparini, P; Zelante, L; Pirvola, U; Pakarinen, L; Lehesjoki, AE; de la Chapelle, A; Sankila, EM
      Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3

      AMERICAN JOURNAL OF HUMAN GENETICS
    86. Waterham, HR; Koster, J; Romeijn, GJ; Hennekam, RCM; Vreken, P; Andersson, HC; FitzPatrick, DR; Kelley, RI; Wanders, RJA
      Mutations in the 3 beta-hydroxysterol Delta(24)-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

      AMERICAN JOURNAL OF HUMAN GENETICS
    87. Zhao, F; Weismann, CG; Satoda, M; Pierpont, MEM; Sweeney, E; Thompson, EM; Gelb, BD
      Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation

      AMERICAN JOURNAL OF HUMAN GENETICS
    88. Zhou, XP; Woodford-Richens, K; Lehtonen, R; Kurose, K; Aldred, M; Hampel, H; Launonen, V; Virta, S; Pilarski, R; Salovaara, R; Bodmer, WF; Conrad, BA; Dunlop, M; Hodgson, SV; Iwama, T; Jarvinen, H; Kellokumpu, I; Kim, JC; Leggett, B; Markie, D; Mecklin, JP; Neale, K; Phillips, R; Piris, J; Rozen, P; Houlston, RS; Aaltonen, LA; Tomlinson, IPM; Eng, C
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ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/11/19 alle ore 11:39:31