Volume 97, Issue 4

Search all Human Genetics articles

March 1996

31 articles in this issue

The contribution of polymorphism in the alcohol dehydrogenase β subunit to alcohol sensitivity in a Japanese population
Tatsuya Takeshita
Xiao-Quan Mao
Kanehisa Morimoto
Original Investigation Pages: 409 - 413
Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization
Giuseppe Calabrese
Rita Mingarelli
Bruno Dallapiccola
Original Investigation Pages: 414 - 417
Genetic analysis of twenty-two patients with Cockayne syndrome
Miria Stefanini
Heather Fawcett
Alan R. Lehmann
Original Investigation Pages: 418 - 423
Mutations of theBtk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan
Shigetoshi Kobayashi
Tsutomu Iwata
Yasuhide Hayashi
Original Investigation Pages: 424 - 430
Polymorphisms of ethanol-oxidizing enzymes in alcoholics with inactive ALDH2
Susumu Higuchi
Taro Muramatsu
Motoi Hayashida
Original Investigation Pages: 431 - 434
A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement
Hiroko Soda
Shigenori Yukizane
Hirohisa Kato
Original Investigation Pages: 435 - 437
SSCP analysis of the tyrosine kinase domain of the insulin receptor gene: Polymorphisms detected in South African black and white subjects
Vanessa R. Panz
Paul Ruff
Harold C. Seftel
Original Investigation Pages: 438 - 440
Identification and characterization of three genes and two pseudogenes on chromosome 13
Maria de Fatima Bonaldo
Pierre Jelenc
Marcelo Bento Soares
Original Investigation Pages: 441 - 452
An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite
Nenad Bukvic
Francesco Susca
Ginevra Guanti
Original Investigation Pages: 453 - 456
Mapping the locus for familial hypertrophic cardiomyopathy to chromosome 11 in a family with a case of apical hypertrophic cardiomyopathy of the Japanese type
Yu-Lin Ko
Jin-Jer Chen
Choong-Chin Liew
Original Investigation Pages: 457 - 461
Identification of three new microsatellite markers in the spinocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map
Tamilla Nechiporuk
Alex Nechiporuk
Stefan M. Pulst
Original Investigation Pages: 462 - 467
Novel trinucleotide deletion in Fabry's disease
Marios A. Cariolou
Michael Christodoulides
Dionysios Tsambaos
Original Investigation Pages: 468 - 470
Activation status of the X chromosome in human micronucleated lymphocytes
James D. Tucker
Joginder Nath
John C. Hando
Original Investigation Pages: 471 - 475
Allelic association of microsatellites of 6p in Italian hemochromatosis patients
C. Camaschella
A. Roetto
E. Rappaport
Original Investigation Pages: 476 - 481
A novel (TA)_n polymorphism in the hexokinase II gene: Application to noninsulin-dependent diabetes mellitus in the Pima Indians
Hossein Ardehali
George E. Tiller
Daryl K. Granner
Original Investigation Pages: 482 - 485
A solitary human H3 histone gene on chromosome 1
Werner Albig
Jens Ebentheuer
Detlef Doenecke
Original Investigation Pages: 486 - 491
Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: Identification of three novel mutations and of two new polymorphisms
Paolo Gasparini
Leonardo D'Agruma
Leopoldo Zelante
Original Investigation Pages: 492 - 495
Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype
Hiroyuki Tsunoda
Toshio Ohshima
Frank Martiniuk
Original Investigation Pages: 496 - 499
No evidence for ‘skewed’ inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers
Roelof-Jan Oostra
Stephan Kemp
Elisabeth M. Sleeker-Wagemakers
Original Investigation Pages: 500 - 505
Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: Evidence for a defect in gonadal ridge development
John S. Fuqua
Ellen S. Sher
Gary D. Berkovitz
Original Investigation Pages: 506 - 511
Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome
Etienne Mornet
Corinne Chateau
Jean-Louis Serre
Original Investigation Pages: 512 - 515
Proportion of the GSTM 10/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases
V. S. Baranov
T. Ivaschenko
L. Kovaleva
Original Investigation Pages: 516 - 520
Alternative splicing of dystrophin exon 4 in normal human muscle
Silvia Torelli
Francesco Muntoni
Original Investigation Pages: 521 - 523
The enigma of common fragile sites
I. Simonic
G. S. Gericke
Original Investigation Pages: 524 - 531
Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q
Joan E. Pellegrino
Rhonda E. Schnur
Elaine H. Zackai
Original Investigation Pages: 532 - 536
A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis
J. Ramón Bilbao
Liliane Loridan
Luis Castaño
Original Investigation Pages: 537 - 539
Congenital alacrima in a patient with G (Opitz Frias) syndrome
Munis Dundar
Kuddusi Erkiliç
Ahmet Kazez
Original Investigation Pages: 540 - 542
A polymorphism but no mutations in the GADD45 gene in breast cancers
H. Blaszyk
A. Hartmann
J. S. Kovach
Rapid Communication Pages: 543 - 547
Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype
P. Jézéquel
B. Chauvel
M. Blayau
Letter to the Editors Pages: 548 - 549
Announcements

Announcement Pages: 550 - 550
Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan
S. Kobayashi
Tsutomu Iwata
Yasuhide Hayashi
Original investigation Pages: 424 - 430

Volume 97, Issue 4

The contribution of polymorphism in the alcohol dehydrogenase β subunit to alcohol sensitivity in a Japanese population

Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization

Genetic analysis of twenty-two patients with Cockayne syndrome

Mutations of theBtk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan

Polymorphisms of ethanol-oxidizing enzymes in alcoholics with inactive ALDH2

A point mutation in exon 3 (His 107→Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement

SSCP analysis of the tyrosine kinase domain of the insulin receptor gene: Polymorphisms detected in South African black and white subjects

Identification and characterization of three genes and two pseudogenes on chromosome 13

An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite

Mapping the locus for familial hypertrophic cardiomyopathy to chromosome 11 in a family with a case of apical hypertrophic cardiomyopathy of the Japanese type

Identification of three new microsatellite markers in the spinocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map

Novel trinucleotide deletion in Fabry's disease

Activation status of the X chromosome in human micronucleated lymphocytes

Allelic association of microsatellites of 6p in Italian hemochromatosis patients

A novel (TA)_n polymorphism in the hexokinase II gene: Application to noninsulin-dependent diabetes mellitus in the Pima Indians

A solitary human H3 histone gene on chromosome 1

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: Identification of three novel mutations and of two new polymorphisms

Acid alpha-glucosidase deficiency: Identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

No evidence for ‘skewed’ inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers

Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: Evidence for a defect in gonadal ridge development

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome

Proportion of the GSTM 10/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases

Alternative splicing of dystrophin exon 4 in normal human muscle

The enigma of common fragile sites

Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis

Congenital alacrima in a patient with G (Opitz Frias) syndrome

A polymorphism but no mutations in the GADD45 gene in breast cancers

Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype

Announcements

Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan

Navigation