Volume 100, Issue 5-6

Search all Human Genetics articles

September 1997

35 articles in this issue

Genetic studies of the leptin receptor gene in morbidly obese French Caucasian families
Stephan Francke
Karine Clement
J. Hager
Original investigation Pages: 491 - 496
Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome
N. J. Lench
Elizabeth A. R. Telford
Brandon J. Wainwright
Original investigation Pages: 497 - 502
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation
M. Milà
Aurora Sànchez
Xavier Estivill
Original investigation Pages: 503 - 507
Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations
Kamiab Tavassoli
Antonin Eigel
Jürgen Horst
Original investigation Pages: 508 - 511
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects
E. Mornet
Françoise Muller
Jean-Louis Serre
Original Investigation Pages: 512 - 514
Isolation and characterization of new microsatellites at the nm23-H1 and nm23-H2 gene loci and application for loss of heterozygosity (LOH) analysis
Markus Seifert
Birgit Theisinger
C. Welter
Original investigation Pages: 515 - 519
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity
J. C. Oosterwijk
Gabriela Richard
Gert-Jan B. van Ommen
Original investigation Pages: 520 - 524
Localisation and distance between ABL and BCR genes in interphase nuclei of bone marrow cells of control donors and patients with chronic myeloid leukaemia
Emílie Lukášová
Stanislav Kozubek
Gerda Horneck
Original investigation Pages: 525 - 535
Y chromosome polymorphisms in Native American and Siberian populations: identification of Native American Y chromosome haplotypes
Jeffrey T. Lell
Michael D. Brown
D. C. Wallace
Original investigation Pages: 536 - 543
A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations
A. M. Jouanolle
Patricia Fergelot
Véronique David
Original investigation Pages: 544 - 547
Major histocompatibility complex (MHC) class III genetics in two Amerindian tribes from Southern Brazil: the Kaingang and the Guarani
S. Weg-Remers
M. Brenden
G. Mauff
Original investigation Pages: 548 - 556
A splicing mutation in RB1 in low penetrance retinoblastoma
E. L. Schubert
Louise C. Strong
M. F. Hansen
Original investigation Pages: 557 - 563
High-throughput analysis of Fragile X (CGG)_n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis
L. Allan Larsen
Karen Grønskov
Jens Vuust
Original investigation Pages: 564 - 568
AFX1 and p54 ^nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism
Usha Peters
Gerd Haberhausen
U. Müller
Original investigation Pages: 569 - 572
Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous
E. Schulze-Bahr
W. Haverkamp
H. Funke
Original investigation Pages: 573 - 576
Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents
J.-G. Chang
Yuh-Jyh Jong
Wen-Shin Wang
Original investigation Pages: 577 - 581
Genetic variation of the 5-HT_2A receptor gene and bipolar affective disorder
Blanca Gutiérrez
Jaume Bertranpetit
L. Fañanás
Original investigation Pages: 582 - 584
A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome
E. Battiloro
Barbara Angeletti
E. D’Ambrosio
Original investigation Pages: 585 - 587
The spatial distribution of human immunoglobulin genes within the nucleus: evidence for gene topography independent of cell type and transcriptional activity
L. Parreira
Margarida Telhada
Maria Carmo-Fonseca
Original investigation Pages: 588 - 594
A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2
H. Kehrer-Sawatzki
Thomas Schwickardt
Winfrid Krone
Original investigation Pages: 595 - 600
Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds
C. Walon
Alex Kartheuser
Christine Verellen-Dumoulin
Original investigation Pages: 601 - 605
Two SRY-negative XX male brothers without genital ambiguity
Juan Carlos Zenteno
Marisol López
S. Kofman-Alfaro
Original investigation Pages: 606 - 610
The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13
Darek Kedra
Eyal Seroussi
J. Dumanski
Original investigation Pages: 611 - 619
Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2–q24.3
Shangzhi Huang
Zhuyu
Labu
Original investigation Pages: 620 - 623
X chromosome inactivation and micronuclei in normal and Turner individuals
John C. Hando
James D. Tucker
J. Nath
Original investigation Pages: 624 - 628
Frequent gains on chromosome arms 1q and/or 8q in human endometrial cancer
Akihiko Suzuki
Shinichi Fukushige
A. Horii
Original investigation Pages: 629 - 636
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients
Hiroyuki Ikeda
Y. Matsubara
Kuniaki Narisawa
Original investigation Pages: 637 - 642
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR
S. Kleinle
U. Wiesmann
S. Liechti-Gallati
Original investigation Pages: 643 - 650
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene
Neelu Puri
Donna Durham-Pierre
M. H. Brilliant
Original investigation Pages: 651 - 656
Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)
The European Consortium on MEN1
J. H. D. Bassett
P. Gaudray
Original investigation Pages: 657 - 665
Expected effects of mass screening policies on the frequency of cystic fibrosis homozygotes
Giorgio Bertorelle
G. Barbujani
Rapid communication Pages: 666 - 668
A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region
O. Bartsch
Georg K. Hinkel
Stylianos E. Antonarakis
Rapid communication Pages: 669 - 675
Different entities of proximal spinal muscular atrophy within one family
B. Wirth
D. Tessarolo
K. Zerres
Rapid communication Pages: 676 - 680
New p57^KIP2 mutations in Beckwith-Wiedemann syndrome
I. Hatada
Akira Nabetani
Tsunehiro Mukai
Rapid communication Pages: 681 - 683
Isolation by distance in Germany
I. Barrai
C. Scapoli
A. Rodriguez-Larralde
Letter to the editors Pages: 684 - 684

Volume 100, Issue 5-6

Genetic studies of the leptin receptor gene in morbidly obese French Caucasian families

Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome

Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation

Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

Isolation and characterization of new microsatellites at the nm23-H1 and nm23-H2 gene loci and application for loss of heterozygosity (LOH) analysis

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

Localisation and distance between ABL and BCR genes in interphase nuclei of bone marrow cells of control donors and patients with chronic myeloid leukaemia

Y chromosome polymorphisms in Native American and Siberian populations: identification of Native American Y chromosome haplotypes

A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations

Major histocompatibility complex (MHC) class III genetics in two Amerindian tribes from Southern Brazil: the Kaingang and the Guarani

A splicing mutation in RB1 in low penetrance retinoblastoma

High-throughput analysis of Fragile X (CGG)_n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis

AFX1 and p54 ^nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism

Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous

Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents

Genetic variation of the 5-HT_2A receptor gene and bipolar affective disorder

A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome

The spatial distribution of human immunoglobulin genes within the nucleus: evidence for gene topography independent of cell type and transcriptional activity

A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2

Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds

Two SRY-negative XX male brothers without genital ambiguity

The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13

Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2–q24.3

X chromosome inactivation and micronuclei in normal and Turner individuals

Frequent gains on chromosome arms 1q and/or 8q in human endometrial cancer

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

Linkage disequilibrium studies in multiple endocrine neoplasia type 1 (MEN1)

Expected effects of mass screening policies on the frequency of cystic fibrosis homozygotes

A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

Different entities of proximal spinal muscular atrophy within one family

New p57^KIP2 mutations in Beckwith-Wiedemann syndrome

Isolation by distance in Germany

Navigation