Volume 99, Issue 5

Search all Human Genetics articles

April 1997

29 articles in this issue

Markers for the gene ob and serum leptin levels in human morbid obesity
Laura Oksanen
Miina Öhman
K. Kontula
Original investigation Pages: 559 - 564
Possible association of the allele status of the CS.7/HhaI polymorphism 5′ of the CFTR gene with postnatal female survival
M. Macek Jr.
Milan Macek Sr.
J. Schmidke
Original investigation Pages: 565 - 572
Dinucleotide repeat in the 3′ flanking region provides a clue to the molecular evolution of the Duffy gene
Jianping Li
Sadahiko Iwamoto
E. Kajii
Original investigation Pages: 573 - 577
The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome
Wanguo Liu
Juliette Faraco
U. Francke
Original investigation Pages: 578 - 584
Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1)
S. E. Lloyd
J. T. Pang
R. V. Thakker
Original investigation Pages: 585 - 589
Alternative splicing of hMSH2 in normal human tissues
Yuriko Mori
Hiromi Shiwaku
A. Horii
Original investigation Pages: 590 - 595
Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype
M. Erdel
Hans-Christoph Duba
Gerd Utermann
Original investigation Pages: 596 - 601
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome
Marco Tartaglia
Sonia Valeri
P. A. Battaglia
Original investigation Pages: 602 - 606
The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?
Iris Schrijver
Wanguo Liu
U. Francke
Original investigation Pages: 607 - 611
Identification of novel mutations in the human EXT1 tumor suppressor gene
D. E. Wells
A. Hill
M. J. Wagner
Original investigation Pages: 612 - 615
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3
H. S. Scott
Haiming Chen
Stylianos E. Antonarakis
Original investigation Pages: 616 - 623
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome
Shigeaki Nonoyama
Mitsunobu Shimadzu
Hans D. Ochs
Original investigation Pages: 624 - 627
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization
J. M. Puck
Lindsay Middelton
Amy E. Pepper
Original investigation Pages: 628 - 633
Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus
D. M. Fathallah
Mohamed Bejaoui
Koussay Dellagi
Original investigation Pages: 634 - 637
The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions
Judith Nardmann
Lisbeth Tranebjærg
H.-J. Lüdecke
Original investigation Pages: 638 - 643
New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles
Rolandos Constantinides
Stavroulla Xenophontos
C. Constantinou Deltas
Original investigation Pages: 644 - 647
Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype
R. Veitia
A. Ion
K. McElreavey
Original investigation Pages: 648 - 652
Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis
Zuzana Dobbie
Karl Heinimann
R. J. Scott
Original investigation Pages: 653 - 657
A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis
D. O. Robinson
David J. Bunyan
Shu C. Yau
Original investigation Pages: 658 - 662
Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance
J. W. Koper
Ronald P. Stolk
Steven W. J. Lamberts
Original investigation Pages: 663 - 668
Hb Lepore-Baltimore (δ^68Leu-β^84Thr) and Hb Lepore-Washington-Boston (δ^87Gln-β^IVS-II-8) in Central Portugal and Spanish Alta Extremadura
M. L. Ribeiro
E. Cunha
T. H. J. Huisman
Original investigation Pages: 669 - 673
Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene
Julie Maynard
Michael Krawczak
M. Upadhyaya
Original investigation Pages: 674 - 676
B-cell-negative severe combined immunodeficiency associated with a common γ chain mutation
Alison M. Jones
Paula A. Clark
C. Kinnon
Original investigation Pages: 677 - 680
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q
D. F. Barker
Joyce C. Denison
Martin C. Gregory
Original investigation Pages: 681 - 684
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24–q25
F. Stögbauer
Peter Young
Gerd Kurlemann
Rapid communication Pages: 685 - 687
Polymorphisms in the PMP-22 gene region (17p11.2–12) are crucial for simplified diagnosis of duplications/deletions
A. Haupt
Ludger Schöls
Jörg T. Epplen
Rapid communication Pages: 688 - 691
Identification of an HD patient with a (CAG)₁₈₀ repeat expansion and the propagation of highly expanded CAG repeats in lambda phage
Kirupa Sathasivam
Iheoma Amaechi
G. Bates
Rapid communication Pages: 692 - 695
Mermaid: a not-so-new family of human repetitive elements
Wojciech Makałowski
Letter to the editors Pages: 696 - 697
Reply
E. Fisher
Letter to the editors Pages: 698 - 698

Volume 99, Issue 5

Markers for the gene ob and serum leptin levels in human morbid obesity

Possible association of the allele status of the CS.7/HhaI polymorphism 5′ of the CFTR gene with postnatal female survival

Dinucleotide repeat in the 3′ flanking region provides a clue to the molecular evolution of the Duffy gene

The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome

Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1)

Alternative splicing of hMSH2 in normal human tissues

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: delineation of the phenotype

Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome

The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?

Identification of novel mutations in the human EXT1 tumor suppressor gene

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3

Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome

Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization

Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus

The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions

New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype

Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis

A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis

Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance

Hb Lepore-Baltimore (δ^68Leu-β^84Thr) and Hb Lepore-Washington-Boston (δ^87Gln-β^IVS-II-8) in Central Portugal and Spanish Alta Extremadura

Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene

B-cell-negative severe combined immunodeficiency associated with a common γ chain mutation

Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q

Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24–q25

Polymorphisms in the PMP-22 gene region (17p11.2–12) are crucial for simplified diagnosis of duplications/deletions

Identification of an HD patient with a (CAG)₁₈₀ repeat expansion and the propagation of highly expanded CAG repeats in lambda phage

Mermaid: a not-so-new family of human repetitive elements

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