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Volume 65(1);  July 1999

Research Articles

Genetics of Angelman syndrome.
Y Jiang, E Lev-Lehman, J Bressler, T F Tsai, A L Beaudet
Am J Hum Genet. Jul 1999; 65(1): 1–6.
PMCID:
PMC1378067
Summary PDF–234K
Function and dysfunction of the presenilins.
S S Sisodia, S H Kim, G Thinakaran
Am J Hum Genet. Jul 1999; 65(1): 7–12. doi: 10.1086/302475
PMCID:
PMC1378068
Summary PDF–159K
Microglia and the immune pathology of Alzheimer disease.
D Giulian
Am J Hum Genet. Jul 1999; 65(1): 13–18. doi: 10.1086/302477
PMCID:
PMC1378069
Summary PDF–501K
Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex.
J W Fox, C A Walsh
Am J Hum Genet. Jul 1999; 65(1): 19–24. doi: 10.1086/302474
PMCID:
PMC1378070
Summary PDF–248K
Learning from the slime mold: Dictyostelium and human disease.
C L Saxe
Am J Hum Genet. Jul 1999; 65(1): 25–30. doi: 10.1086/302476
PMCID:
PMC1378071
Summary PDF–417K
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.
P Holden, E G Canty, G R Mortier, B Zabel, J Spranger, A Carr, M E Grant, J A Loughlin, M D Briggs
Am J Hum Genet. Jul 1999; 65(1): 31–38. doi: 10.1086/302440
PMCID:
PMC1378072
Summary PDF–675K
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.
R Thomas, R McConnell, J Whittacker, P Kirkpatrick, J Bradley, R Sandford
Am J Hum Genet. Jul 1999; 65(1): 39–49. doi: 10.1086/302460
PMCID:
PMC1378073
Summary PDF–337K
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
S W Knight, N S Heiss, T J Vulliamy, S Greschner, G Stavrides, G S Pai, G Lestringant, N Varma, P J Mason, I Dokal, A Poustka
Am J Hum Genet. Jul 1999; 65(1): 50–58. doi: 10.1086/302446
PMCID:
PMC1378074
Summary PDF–276K
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
L A Kluijtmans, G H Boers, J P Kraus, L P van den Heuvel, J R Cruysberg, F J Trijbels, H J Blom
Am J Hum Genet. Jul 1999; 65(1): 59–67. doi: 10.1086/302439
PMCID:
PMC1378075
Summary PDF–229K
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.
V Satre, N Monnier, F Berthoin, C Ayuso, A Joannard, P S Jouk, I Lopez-Pajares, A Megabarne, H J Philippe, H Plauchu, M L Torres, J Lunardi
Am J Hum Genet. Jul 1999; 65(1): 68–76. doi: 10.1086/302443
PMCID:
PMC1378076
Summary PDF–337K
Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.
B Chen, B Rigat, C Curry, D J Mahuran
Am J Hum Genet. Jul 1999; 65(1): 77–87. doi: 10.1086/302463
PMCID:
PMC1378077
Summary PDF–536K
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
C Cazeneuve, T Sarkisian, C Pêcheux, M Dervichian, B Nédelec, P Reinert, A Ayvazyan, J C Kouyoumdjian, H Ajrapetyan, M Delpech, M Goossens, C Dodé, G Grateau, S Amselem
Am J Hum Genet. Jul 1999; 65(1): 88–97. doi: 10.1086/302459
PMCID:
PMC1378078
Summary PDF–339K
Noninvasive test for fragile X syndrome, using hair root analysis.
R Willemsen, B Anar, Y De Diego Otero, B B de Vries, Y Hilhorst-Hofstee, A Smits, E van Looveren, P J Willems, H Galjaard, B A Oostra
Am J Hum Genet. Jul 1999; 65(1): 98–103.
PMCID:
PMC1378079
Summary PDF–410K
Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster.
M Del Campo, M C Jones, A N Veraksa, C J Curry, K L Jones, J T Mascarello, Z Ali-Kahn-Catts, T Drumheller, W McGinnis
Am J Hum Genet. Jul 1999; 65(1): 104–110. doi: 10.1086/302467
PMCID:
PMC1378080
Summary PDF–414K
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.
D Pfeifer, R Kist, K Dewar, K Devon, E S Lander, B Birren, L Korniszewski, E Back, G Scherer
Am J Hum Genet. Jul 1999; 65(1): 111–124. doi: 10.1086/302455
PMCID:
PMC1378081
Summary PDF–515K
A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.
L M Boon, P Brouillard, A Irrthum, L Karttunen, M L Warman, R Rudolph, J B Mulliken, B R Olsen, M Vikkula
Am J Hum Genet. Jul 1999; 65(1): 125–133. doi: 10.1086/302450
PMCID:
PMC1378082
Summary PDF–734K
In Swedish families with hereditary prostate cancer, linkage to the HPC1 locus on chromosome 1q24-25 is restricted to families with early-onset prostate cancer.
H Grönberg, J Smith, M Emanuelsson, B A Jonsson, A Bergh, J Carpten, W Isaacs, J Xu, D Meyers, J Trent, J E Damber
Am J Hum Genet. Jul 1999; 65(1): 134–140. doi: 10.1086/302447
PMCID:
PMC1378083
Summary PDF–243K
A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.
K Fukushima, N Kasai, Y Ueki, K Nishizaki, K Sugata, S Hirakawa, A Masuda, M Gunduz, Y Ninomiya, Y Masuda, M Sato, W T McGuirt, P Coucke, G Van Camp, R J Smith
Am J Hum Genet. Jul 1999; 65(1): 141–150. doi: 10.1086/302461
PMCID:
PMC1378084
Summary PDF–348K
The gene for cherubism maps to chromosome 4p16.3.
J Mangion, N Rahman, S Edkins, R Barfoot, T Nguyen, A Sigurdsson, J V Townend, D R Fitzpatrick, A M Flanagan, M R Stratton
Am J Hum Genet. Jul 1999; 65(1): 151–157. doi: 10.1086/302454
PMCID:
PMC1378085
Summary PDF–386K
The gene for cherubism maps to chromosome 4p16.
V Tiziani, E Reichenberger, C L Buzzo, S Niazi, N Fukai, M Stiller, H Peters, F M Salzano, C M Raposo do Amaral, B R Olsen
Am J Hum Genet. Jul 1999; 65(1): 158–166. doi: 10.1086/302456
PMCID:
PMC1378086
Summary PDF–852K
Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage.
K Chapman, Z Mustafa, C Irven, A J Carr, K Clipsham, A Smith, J Chitnavis, J S Sinsheimer, V A Bloomfield, M McCartney, O Cox, L R Cardon, B Sykes, J Loughlin
Am J Hum Genet. Jul 1999; 65(1): 167–174. doi: 10.1086/302465
PMCID:
PMC1378087
Summary PDF–225K
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
P D Turnpenny, M P Bulman, T M Frayling, T K Abu-Nasra, C Garrett, A T Hattersley, S Ellard
Am J Hum Genet. Jul 1999; 65(1): 175–182. doi: 10.1086/302464
PMCID:
PMC1378088
Summary PDF–489K
Sequence diversity in 36 candidate genes for cardiovascular disorders.
F Cambien, O Poirier, V Nicaud, S M Herrmann, C Mallet, S Ricard, I Behague, V Hallet, H Blanc, V Loukaci, J Thillet, A Evans, J B Ruidavets, D Arveiler, G Luc, L Tiret
Am J Hum Genet. Jul 1999; 65(1): 183–191. doi: 10.1086/302448
PMCID:
PMC1378089
Summary PDF–256K
Patterns of instability of expanded CAG repeats at the ERDA1 locus in general populations.
R Deka, S Guangyun, J Wiest, D Smelser, S Chunhua, Y Zhong, R Chakraborty
Am J Hum Genet. Jul 1999; 65(1): 192–198. doi: 10.1086/302453
PMCID:
PMC1378090
Summary PDF–245K
An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major paleolithic expansion from southwestern europe.
N Izagirre, C de la Rúa
Am J Hum Genet. Jul 1999; 65(1): 199–207. doi: 10.1086/302442
PMCID:
PMC1378091
Summary PDF–229K
Sex-specific migration patterns in Central Asian populations, revealed by analysis of Y-chromosome short tandem repeats and mtDNA.
A Pérez-Lezaun, F Calafell, D Comas, E Mateu, E Bosch, R Martínez-Arias, J Clarimón, G Fiori, D Luiselli, F Facchini, D Pettener, J Bertranpetit
Am J Hum Genet. Jul 1999; 65(1): 208–219. doi: 10.1086/302451
PMCID:
PMC1378092
Summary PDF–263K
Use of unlinked genetic markers to detect population stratification in association studies.
J K Pritchard, N A Rosenberg
Am J Hum Genet. Jul 1999; 65(1): 220–228. doi: 10.1086/302449
PMCID:
PMC1378093
Summary PDF–262K
Methods for detection of parent-of-origin effects in genetic studies of case-parents triads.
C R Weinberg
Am J Hum Genet. Jul 1999; 65(1): 229–235. doi: 10.1086/302466
PMCID:
PMC1378094
Summary PDF–174K
A test of transmission/disequilibrium for quantitative traits in pedigree data, by multiple regression.
V George, H K Tiwari, X Zhu, R C Elston
Am J Hum Genet. Jul 1999; 65(1): 236–245. doi: 10.1086/302444
Correction in:
Am J Hum Genet. Oct 1999; 65(4): 1214.
PMCID:
PMC1378095
Summary PDF–196K Correction

Letters

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
R Wadey, J McKie, C Papapetrou, H Sutherland, F Lohman, J Osinga, I Frohn, R Hofstra, C Meijers, F Amati, E Conti, A Pizzuti, B Dallapiccola, G Novelli, P Scambler
Am J Hum Genet. Jul 1999; 65(1): 247–249. doi: 10.1086/302468
PMCID:
PMC1378096
Summary PDF–763K
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli.
K Devriendt, J Jaeken, G Matthijs, H Van Esch, P Debeer, M Gewillig, J P Fryns
Am J Hum Genet. Jul 1999; 65(1): 249–251. doi: 10.1086/302452
PMCID:
PMC1378097
Summary PDF–763K

Research Article

Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion.
M C Lanasa, W A Hogge, C Kubik, J Blancato, E P Hoffman
Am J Hum Genet. Jul 1999; 65(1): 252–254. doi: 10.1086/302441
PMCID:
PMC1378098
Summary PDF–763K

Letters

No evidence of linkage for chromosome 1q42.2-43 in prostate cancer.
A S Whittemore, I G Lin, I Oakley-Girvan, R P Gallagher, J Halpern, L N Kolonel, A H Wu, C L Hsieh
Am J Hum Genet. Jul 1999; 65(1): 254–256. doi: 10.1086/302457
PMCID:
PMC1378099
Summary PDF–763K
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia.
J Kaukonen, M Zeviani, G P Comi, M G Piscaglia, L Peltonen, A Suomalainen
Am J Hum Genet. Jul 1999; 65(1): 256–261. doi: 10.1086/302445
PMCID:
PMC1378100
Summary PDF–763K
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.
A Adato, H Kalinski, D Weil, H Chaib, M Korostishevsky, B Bonne-Tamir
Am J Hum Genet. Jul 1999; 65(1): 261–265. doi: 10.1086/302438
PMCID:
PMC1378101
Summary PDF–763K
Anticipation in familial chronic lymphocytic leukemia.
L R Goldin, M Sgambati, G E Marti, L Fontaine, N Ishibe, N Caporaso
Am J Hum Genet. Jul 1999; 65(1): 265–269. doi: 10.1086/302458
PMCID:
PMC1378102
Summary PDF–763K
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics