Volume 97, Issue 5

Search all Human Genetics articles

March 1996

35 articles in this issue

Genetic deficiencies of the glycogen phosphorylase system
Jan Hendrickx
Patrick J. Willems
Review Article Pages: 551 - 556
A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family
Ken Tanigawa
Morad Bensidhoum
Cécile Ged
Original Investigation Pages: 557 - 560
Assignment of the human ST2 gene to chromosome 2 at q11.2
Shin-ichi Tominaga
Johji Inazawa
Shoji Tsuji
Original Investigation Pages: 561 - 563
Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata
Tomonobu Hasegawa
Tsutomu Ogata
Nobutake Matsuo
Original Investigation Pages: 564 - 567
Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing
Thomas Eggermann
Hartmut Engels
Sabine Stengel-Rutkowski
Original Investigation Pages: 568 - 572
Differential underacetylation of histones H2A, H3 and H4 on the inactive X chromosome in human female cells
Nikolai D. Belyaev
Ann M. Keohane
Bryan M. Turner
Original Investigation Pages: 573 - 578
Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein
W. Friedl
S. Meuschel
S. Krieger
Original Investigation Pages: 579 - 584
Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg→Cys mutation in the β-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure
Y. L. Ko
J. J. Chen
C. C. Liew
Original Investigation Pages: 585 - 590
Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR
H. Maruyama
Kawakami
S. Nakamura
Original Investigation Pages: 591 - 595
SRY-negative true hermaphrodites and an XX male in two generations of the same family
Ester S. Ramos
Carlos A. Moreira-Filho
Lucia Martelli
Original Investigation Pages: 596 - 598
Fanconi anaemia in Italy: High prevalence of complementation group A in two geographic clusters
Anna Savoia
Adriana Zatteral
Hans Joenje
Original Investigation Pages: 599 - 603
Generation of sequence-tagged sites from Xp22.3 by isolating commonAlu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments
I. A. Glass
M. Passage
L. J. Shapiro
Original Investigation Pages: 604 - 610
A novel polymorphism in the coding region of CYBB, the human gp91-phox gene
Futoshi Kuribayashi
Martin de Boer
Dirk Roos
Original Investigation Pages: 611 - 613
Systematic screening for mutations in the human serotonin-2A (5-HT_2A) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia
Jeanette Erdmann
Daphne Shimron-Abarbanell
Markus M. Nöthen
Original Investigation Pages: 614 - 619
The human lanosterol synthase gene maps to chromosome 21q22.3
Michele Young
Haiming Chen
Stylianos E. Antonarakis
Original Investigation Pages: 620 - 624
Characterization of the human p57^KIP2 gene: Alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis
Takashi Tokino
Tsutomu Urano
Yusuke Nakamura
Original Investigation Pages: 625 - 631
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas
Lucia Rosaria De Vitis
Andrea Tedde
Laura Papi
Original Investigation Pages: 632 - 637
Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin
Lucia Rosaria De Vitis
Andrea Tedde
Laura Papi
Original Investigation Pages: 638 - 641
Duplication of thePMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
Benjamin B. Roa
Frank Greenberg
R. Ellen Magenis
Original Investigation Pages: 642 - 649
Distribution of mosaicism in human placentae
Karen G. Henderson
Tracey E. Shaw
R. Douglas Wilson
Original Investigation Pages: 650 - 654
Human chromosome 1 localization of the gene for a prostaglandin F_2α, receptor negative regulatory protein
David O. Orlicky
Rebecca Berry
James M. Sikela
Original Investigation Pages: 655 - 658
Cartographic study: Breakpoints in 1574 families carrying human reciprocal translocations
Olivier Cohen
Christine Cans
Martine Cuillel
Original Investigation Pages: 659 - 667
An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine
D. Marez
M. Legrand
F. Broly
Original Investigation Pages: 668 - 670
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families
Agnès Lezin
Jenny Martial
Hervé Chneiweiss
Original Investigation Pages: 671 - 676
Genotypes with the apolipoprotein ε4 allele are predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men
Jari H. Stengård
Juha Pekkanen
Charles F. Sing
Original Investigation Pages: 677 - 684
A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease
Ruth Navon
Beth Seifried
Menachem Sadeh
Original Investigation Pages: 685 - 687
A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene
A. Braun
E. Maier
B. Müller
Rapid Communication Pages: 688 - 689
Mapping of the variegate porphyria (VP) gene: Contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32
Louise Warnich
Peter N. Meissner
Andries E. Retief
Rapid Communication Pages: 690 - 692
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy
Takeshi Yamada
Takuro Kobayashi
Rapid Communication Pages: 693 - 694
New allele variants of the immunoglobulin switch (Sα) regions
Genoveva Keyeux
J. E. Bernal
DNA Variants Pages: 695 - 696
A newXmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene
Christoph G. O. Baerwald
Gabriel S. Panayi
Jerry S. Lanchbury
DNA Variants Pages: 697 - 698
Erratum
B. S. Gathof
M. Sommer
Y. S. Shin
Erratum Pages: 699 - 699
Canavan Foundation Postdoctoral Fellowship

Announcements Pages: 700 - 700
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
Benjamin B. Roa
Frank Greenberg
J. R. Lupski
Original investigation Pages: 642 - 649
A new XmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene
Christoph G. O. Baerwald
Gabriel S. Panayi
J. S. Lanchbury
DNA variants Pages: 697 - 698

Volume 97, Issue 5

Genetic deficiencies of the glycogen phosphorylase system

A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family

Assignment of the human ST2 gene to chromosome 2 at q11.2

Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: A clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata

Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing

Differential underacetylation of histones H2A, H3 and H4 on the inactive X chromosome in human female cells

Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein

Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg→Cys mutation in the β-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure

Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR

SRY-negative true hermaphrodites and an XX male in two generations of the same family

Fanconi anaemia in Italy: High prevalence of complementation group A in two geographic clusters

Generation of sequence-tagged sites from Xp22.3 by isolating commonAlu-PCR products of radiation hybrids retaining overlapping human X chromosome fragments

A novel polymorphism in the coding region of CYBB, the human gp91-phox gene

Systematic screening for mutations in the human serotonin-2A (5-HT_2A) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia

The human lanosterol synthase gene maps to chromosome 21q22.3

Characterization of the human p57^KIP2 gene: Alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin

Duplication of thePMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

Distribution of mosaicism in human placentae

Human chromosome 1 localization of the gene for a prostaglandin F_2α, receptor negative regulatory protein

Cartographic study: Breakpoints in 1574 families carrying human reciprocal translocations

An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): Genetic analysis of three unrelated SCA2 families

Genotypes with the apolipoprotein ε4 allele are predictors of coronary heart disease mortality in a longitudinal study of elderly Finnish men

A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease

A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene

Mapping of the variegate porphyria (VP) gene: Contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32

A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy

New allele variants of the immunoglobulin switch (Sα) regions

A newXmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene

Erratum

Canavan Foundation Postdoctoral Fellowship

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

A new XmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene

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