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Volume 62(3);  1998 Mar

Research Articles

Mechanisms of cell death in the inherited retinal degenerations.
G H Travis
Am J Hum Genet. 1998 Mar; 62(3): 503–508. doi: 10.1086/301772
PMCID:
PMC1376966
Summary PDF–382KCite
CAS, the human homologue of the yeast chromosome-segregation gene CSE1, in proliferation, apoptosis, and cancer.
U Brinkmann
Am J Hum Genet. 1998 Mar; 62(3): 509–513. doi: 10.1086/301773
PMCID:
PMC1376967
Summary PDF–716KCite
Molecular prophets of death in the fly.
A Rodriguez, P Chen, J M Abrams
Am J Hum Genet. 1998 Mar; 62(3): 514–519. doi: 10.1086/301775
PMCID:
PMC1376969
Summary PDF–378KCite
The genetics of cataract: our vision becomes clearer.
J F Hejtmancik
Am J Hum Genet. 1998 Mar; 62(3): 520–525. doi: 10.1086/301774
PMCID:
PMC1376968
Summary PDF–181KCite
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
A Shiels, D Mackay, A Ionides, V Berry, A Moore, S Bhattacharya
Am J Hum Genet. 1998 Mar; 62(3): 526–532. doi: 10.1086/301762
PMCID:
PMC1376956
Summary PDF–405KCite
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.
S Bione, C Sala, C Manzini, G Arrigo, O Zuffardi, S Banfi, G Borsani, P Jonveaux, C Philippe, M Zuccotti, A Ballabio, D Toniolo
Am J Hum Genet. 1998 Mar; 62(3): 533–541. doi: 10.1086/301761
PMCID:
PMC1376955
Summary PDF–1.2MCite
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
G Matthijs, E Schollen, E Van Schaftingen, J J Cassiman, J Jaeken
Am J Hum Genet. 1998 Mar; 62(3): 542–550. doi: 10.1086/301763
PMCID:
PMC1376957
Summary PDF–536KCite
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
S Gilad, L Chessa, R Khosravi, P Russell, Y Galanty, M Piane, R A Gatti, T J Jorgensen, Y Shiloh, A Bar-Shira
Am J Hum Genet. 1998 Mar; 62(3): 551–561. doi: 10.1086/301755
PMCID:
PMC1376949
Summary PDF–494KCite
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
A Daniele, G Parenti, M d'Addio, G Andria, A Ballabio, G Meroni
Am J Hum Genet. 1998 Mar; 62(3): 562–572. doi: 10.1086/301746
PMCID:
PMC1376941
Summary PDF–1.7MCite
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.
I Stoilov, A N Akarsu, I Alozie, A Child, M Barsoum-Homsy, M E Turacli, M Or, R A Lewis, N Ozdemir, G Brice, S G Aktan, L Chevrette, M Coca-Prados, M Sarfarazi
Am J Hum Genet. 1998 Mar; 62(3): 573–584. doi: 10.1086/301764
PMCID:
PMC1376958
Summary PDF–2.1MCite
Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.
S Gantla, C T Bakker, B Deocharan, N R Thummala, J Zweiner, M Sinaasappel, J Roy Chowdhury, P J Bosma, N Roy Chowdhury
Am J Hum Genet. 1998 Mar; 62(3): 585–592. doi: 10.1086/301756
PMCID:
PMC1376950
Summary PDF–1.7MCite
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
J Oh, L Ho, S Ala-Mello, D Amato, L Armstrong, S Bellucci, G Carakushansky, J P Ellis, C T Fong, J S Green, E Heon, E Legius, A V Levin, H K Nieuwenhuis, A Pinckers, N Tamura, M L Whiteford, H Yamasaki, R A Spritz
Am J Hum Genet. 1998 Mar; 62(3): 593–598. doi: 10.1086/301757
PMCID:
PMC1376951
Summary PDF–283KCite
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
B M Manning, K A Quane, H Ording, A Urwyler, V Tegazzin, M Lehane, J O'Halloran, E Hartung, L M Giblin, P J Lynch, P Vaughan, K Censier, D Bendixen, G Comi, L Heytens, K Monsieurs, T Fagerlund, W Wolz, J J Heffron, C R Muller, T V McCarthy
Am J Hum Genet. 1998 Mar; 62(3): 599–609. doi: 10.1086/301748
PMCID:
PMC1376943
Summary PDF–313KCite
Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.
K C Sippel, R E Fraioli, G D Smith, M E Schalkoff, J Sutherland, B L Gallie, T P Dryja
Am J Hum Genet. 1998 Mar; 62(3): 610–619. doi: 10.1086/301766
PMCID:
PMC1376960
Summary PDF–925KCite
Assignment of the tibial muscular dystrophy locus to chromosome 2q31.
H Haravuori, P Mäkelä-Bengs, B Udd, J Partanen, L Pulkkinen, H Somer, L Peltonen
Am J Hum Genet. 1998 Mar; 62(3): 620–626. doi: 10.1086/301752
PMCID:
PMC1376946
Summary PDF–264KCite
Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.
F Kyndt, J J Schott, J N Trochu, F Baranger, O Herbert, V Scott, E Fressinaud, A David, J P Moisan, J B Bouhour, H Le Marec, B Bénichou
Am J Hum Genet. 1998 Mar; 62(3): 627–632. doi: 10.1086/301747
PMCID:
PMC1376942
Summary PDF–257KCite
Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.
P F Chance, B A Rabin, S G Ryan, Y Ding, M Scavina, B Crain, J W Griffin, D R Cornblath
Am J Hum Genet. 1998 Mar; 62(3): 633–640. doi: 10.1086/301769
PMCID:
PMC1376963
Summary PDF–295KCite
Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.
M Sarfarazi, A Child, D Stoilova, G Brice, T Desai, O C Trifan, D Poinoosawmy, R P Crick
Am J Hum Genet. 1998 Mar; 62(3): 641–652. doi: 10.1086/301767
PMCID:
PMC1376961
Summary PDF–819KCite
Linkage analysis of chromosome 1q markers in 136 prostate cancer families. The Cancer Research Campaign/British Prostate Group U.K. Familial Prostate Cancer Study Collaborators.
R A Eeles, F Durocher, S Edwards, D Teare, M Badzioch, R Hamoudi, S Gill, P Biggs, D Dearnaley, A Ardern-Jones, A Dowe, R Shearer, D L McLennan, R L Norman, P Ghadirian, A Aprikian, D Ford, C Amos, T M King, F Labrie, J Simard, S A Narod, D Easton, W D Foulkes
Am J Hum Genet. 1998 Mar; 62(3): 653–658. doi: 10.1086/301745
Correction in:
Am J Hum Genet. 2006 Jun; 78(6): 1097.
PMCID:
PMC1376940
Summary PDF–242KCite
Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians.
R A Norman, P A Tataranni, R Pratley, D B Thompson, R L Hanson, M Prochazka, L Baier, M G Ehm, H Sakul, T Foroud, W T Garvey, D Burns, W C Knowler, P H Bennett, C Bogardus, E Ravussin
Am J Hum Genet. 1998 Mar; 62(3): 659–668. doi: 10.1086/301758
PMCID:
PMC1376952
Summary PDF–316KCite
Genome search in celiac disease.
L Greco, G Corazza, M C Babron, F Clot, M C Fulchignoni-Lataud, S Percopo, P Zavattari, F Bouguerra, C Dib, R Tosi, R Troncone, A Ventura, W Mantavoni, G Magazzù, R Gatti, R Lazzari, A Giunta, F Perri, G Iacono, E Cardi, S de Virgiliis, F Cataldo, G De Angelis, S Musumeci, F Clerget-Darpoux, et al.
Am J Hum Genet. 1998 Mar; 62(3): 669–675. doi: 10.1086/301754
PMCID:
PMC1376948
Summary PDF–262KCite
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
D Ford, D F Easton, M Stratton, S Narod, D Goldgar, P Devilee, D T Bishop, B Weber, G Lenoir, J Chang-Claude, H Sobol, M D Teare, J Struewing, A Arason, S Scherneck, J Peto, T R Rebbeck, P Tonin, S Neuhausen, R Barkardottir, J Eyfjord, H Lynch, B A Ponder, S A Gayther, M Zelada-Hedman, et al.
Am J Hum Genet. 1998 Mar; 62(3): 676–689. doi: 10.1086/301749
PMCID:
PMC1376944
Summary PDF–360KCite
Significance levels in complex inheritance.
N E Morton
Am J Hum Genet. 1998 Mar; 62(3): 690–697. doi: 10.1086/301741
Correction in:
Am J Hum Genet, volume 63 on page 1252
PMCID:
PMC1376937
Summary PDF–284KCite
On the probabilities of identity states in permutable populations.
C Cannings
Am J Hum Genet. 1998 Mar; 62(3): 698–702. doi: 10.1086/301743
PMCID:
PMC1376939
Summary PDF–204KCite
Marker selection for the transmission/disequilibrium test, in recently admixed populations.
N L Kaplan, E R Martin, R W Morris, B S Weir
Am J Hum Genet. 1998 Mar; 62(3): 703–712. doi: 10.1086/301760
PMCID:
PMC1376954
Summary PDF–302KCite

Letters

A BRCA1 nonsense mutation causes exon skipping.
S Mazoyer, N Puget, L Perrin-Vidoz, H T Lynch, O M Serova-Sinilnikova, G M Lenoir
Am J Hum Genet. 1998 Mar; 62(3): 713–715. doi: 10.1086/301768
PMCID:
PMC1376962
Summary PDF–3.0MCite
Mutations of the RET-GDNF signaling pathway in Ondine's curse.
J Amiel, R Salomon, T Attié, A Pelet, H Trang, M Mokhtari, C Gaultier, A Munnich, S Lyonnet
Am J Hum Genet. 1998 Mar; 62(3): 715–717. doi: 10.1086/301759
PMCID:
PMC1376953
Summary PDF–3.0MCite
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
S Takahashi, Y Makita, J Oki, A Miyamoto, J Yanagawa, E Naito, Y Goto, A Okuno
Am J Hum Genet. 1998 Mar; 62(3): 717–719. doi: 10.1086/301751
PMCID:
PMC1376970
AbstractCite
A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.
S Yamamoto, M Okada, M Tsujikawa, Y Shimomura, K Nishida, Y Inoue, H Watanabe, N Maeda, H Kurahashi, S Kinoshita, Y Nakamura, Y Tano
Am J Hum Genet. 1998 Mar; 62(3): 719–722. doi: 10.1086/301765
PMCID:
PMC1376959
Summary PDF–3.0MCite
A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child.
F Altare, E Jouanguy, S Lamhamedi-Cherradi, M C Fondanéche, C Fizame, F Ribiérre, G Merlin, Z Dembic, R Schreiber, B Lisowska-Grospierre, A Fischer, E Seboun, J L Casanova
Am J Hum Genet. 1998 Mar; 62(3): 723–726. doi: 10.1086/301750
PMCID:
PMC1376945
Summary PDF–3.0MCite
On the probability of identity states in permutable populations: reply to Cannings.
E Génin, H Quesneville, F Clerget-Darpoux
Am J Hum Genet. 1998 Mar; 62(3): 726–727. doi: 10.1086/301771
PMCID:
PMC1376965
Summary PDF–3.0MCite
Consanguinity and relative-pair methods for linkage analysis.
D E Weeks, J S Sinsheimer
Am J Hum Genet. 1998 Mar; 62(3): 728–736. doi: 10.1086/301742
PMCID:
PMC1376938
Summary PDF–3.0MCite
Health, life, and disability insurance and hereditary nonpolyposis colorectal cancer.
M A Rodriguez-Bigas, H F Vasen, L O'Malley, M J Rosenblatt, C Farrell, T K Weber, N J Petrelli
Am J Hum Genet. 1998 Mar; 62(3): 736–737. doi: 10.1086/301753
PMCID:
PMC1376947
Summary PDF–3.0MCite
Likelihood calculation conditional on observed pedigree structure.
P M Karunaratne, R C Elston
Am J Hum Genet. 1998 Mar; 62(3): 738–740. doi: 10.1086/301770
PMCID:
PMC1376964
Summary PDF–3.0MCite
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics