Volume 87, Issue 4

Search all Human Genetics articles

August 1991

32 articles in this issue

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
David S. Konecki
Uta Lichter-Konecki
Review Article Pages: 377 - 388
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria
D. S. Konecki
M. Schlotter
U. Lichter-Konecki
Original Investigations Pages: 389 - 393
An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1
P. Edward Purdue
Michael J. Lumb
Christopher J. Danpure
Original Investigations Pages: 394 - 396
Identification of mutations in two families with sporadic hemophilia A
Christine Paynton
Gobinda Sarkar
Steve S. Sommer
Original Investigations Pages: 397 - 400
Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)_n dinucleotide repeat
Michael B. Petersen
James L. Weber
Stylianos E. Antonarakis
Original Investigations Pages: 401 - 404
Spinocerebellar ataxia: multipoint linkage analysis of genes associated with the disease locus
Patricia J. Wilkie
Lawrence J. Schut
Stephen S. Rich
Original Investigations Pages: 405 - 408
Mechanisms of insertional mutagenesis in human genes causing genetic disease
David N. Cooper
Michael Krawczak
Original Investigations Pages: 409 - 415
Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man
R. M. Speed
M. J. W. Faed
W. Barnetson
Original Investigations Pages: 416 - 420
Fragile X expression and X inactivation
Doris Wöhrle
Peter Steinbach
Original Investigations Pages: 421 - 424
The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene
Steen Kølvraa
Niels Gregersen
Lars Bolund
Original Investigations Pages: 425 - 428
Orosomucoid (ORM 1) subtyping and formal genetics
C. Luckenbach
J. Kömpf
H. Ritter
Original Investigations Pages: 429 - 432
A polymorphic region defined by pCN2 (the 3′ nontranslated region of N-ras) maps to chromosome 9cen-p12
Tsutomu Nobori
Lisa Evans Hexdall
Dennis A. Carson
Original Investigations Pages: 433 - 437
Association between Rh and plasma iron binding (transferrin)
Carlos Y. Valenzuela
Alfredo Avendaño
Zuraiya Harb
Original Investigations Pages: 438 - 440
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene
Thilo Dörk
Ulrich Wulbrand
Burkhard Tümmler
Original Investigations Pages: 441 - 446
Cytogenetic studies in human sperm
A. M. Estop
K. Cieply
K. Garver
Original Investigations Pages: 447 - 451
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13
Anjana Lal Pettigrew
Frank Greenberg
David H. Ledbetter
Original Investigations Pages: 452 - 456
Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene
Jochen Reiss
David N. Cooper
Michael Krawczak
Original Investigations Pages: 457 - 461
Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica
Ernest Beutler
Wanda Kuhl
Walter Rodríguez R.
Original Investigations Pages: 462 - 464
Esterase D and retinoblastoma gene loci are tightly linked to Wilson's disease in Chinese pedigrees from Taiwan
Lee-Ming Chuang
Tong-Yuan Tai
Boniface J. Lin
Original Investigations Pages: 465 - 468
DNA haplotype analysis suggests linkage disequilibrium in the human insulin receptor gene
Margareta Sten-Linder
Marianne Olsson
Suad Efendić
Original Investigations Pages: 469 - 474
Status of the search for a major genetic locus for affective disorder in the Old Order Amish
Andrew J. Pakstis
Judith R. Kidd
Kenneth K. Kidd
Original Investigations Pages: 475 - 483
Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria
Jin-Sung Lee
Gunnel Lundin
Bernard Grandchamp
Original Investigations Pages: 484 - 488
Labeling of the centromeric region on human chromosome 8 by in situ hybridization
Heinz-Ulrich G. Weier
Joe W. Gray
Hans-Dieter Kleine
Original Investigations Pages: 489 - 494
Detection of APC region-specific signals by nonisotopic chromosomal in situ suppression (CISS)-hybridization using a microdissection library as a probe
Udo Trautmann
Gabriele Leuteritz
Wolfgang G. Ballhausen
Original Investigations Pages: 495 - 497
Isodicentric X chromosome in a patient with Turner syndrome — implications for localization of the X-inactivation center
Anjana Lal Pettigrew
Edward R. B. McCabe
Frederick F. B. Elder
Short Communications Pages: 498 - 502
The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts
Ann-Marie Steen
Suzanne Marcus
Bo Lambert
Short Communications Pages: 503 - 505
Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster
George H. Sack Jr.
C.Conover Talbot Jr.
Mordechai Pras
Short Communications Pages: 506 - 508
Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13
J. F. De Rijk-van Andel
C. E. Catsman-Berrevoets
B. A. Oostra
Short Communications Pages: 509 - 510
Molecular analysis of cystic fibrosis in the Hungarian population
Margit Nemeti
Elaine Louie
Zoltan Papp
Short Communications Pages: 511 - 512
Cytogenetic studies on MIC gas-exposed persons in Bhopal
B. C. Das
Letters to the Editors Pages: 513 - 515
The ΔF508 mutation and RFLP-linked loci in Spanish cystic fibrosis families
B. Peral
C. Hernández-Chico
M. Devoto
Letters to the Editors Pages: 516 - 517
Announcements

Announcement Pages: 518 - 518

Volume 87, Issue 4

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria

An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1

Identification of mutations in two families with sporadic hemophilia A

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)_n dinucleotide repeat

Spinocerebellar ataxia: multipoint linkage analysis of genes associated with the disease locus

Mechanisms of insertional mutagenesis in human genes causing genetic disease

Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man

Fragile X expression and X inactivation

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene

Orosomucoid (ORM 1) subtyping and formal genetics

A polymorphic region defined by pCN2 (the 3′ nontranslated region of N-ras) maps to chromosome 9cen-p12

Association between Rh and plasma iron binding (transferrin)

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

Cytogenetic studies in human sperm

Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica

Esterase D and retinoblastoma gene loci are tightly linked to Wilson's disease in Chinese pedigrees from Taiwan

DNA haplotype analysis suggests linkage disequilibrium in the human insulin receptor gene

Status of the search for a major genetic locus for affective disorder in the Old Order Amish

Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria

Labeling of the centromeric region on human chromosome 8 by in situ hybridization

Detection of APC region-specific signals by nonisotopic chromosomal in situ suppression (CISS)-hybridization using a microdissection library as a probe

Isodicentric X chromosome in a patient with Turner syndrome — implications for localization of the X-inactivation center

The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts

Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster

Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13

Molecular analysis of cystic fibrosis in the Hungarian population

Cytogenetic studies on MIC gas-exposed persons in Bhopal

The ΔF508 mutation and RFLP-linked loci in Spanish cystic fibrosis families

Announcements

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