Volume 100, Issue 3-4

Search all Human Genetics articles

August 1997

32 articles in this issue

Human centromeric DNAs
C. Lee
R. Wevrick
C. C. Lin
Review article Pages: 291 - 304
Identical mutations and phenotypic variation
Ulrich Wolf
Review article Pages: 305 - 321
Localisation of the classical DNA satellites on human chromosomes as determined by primed in situ labelling (PRINS)
A. J. Therkelsen
A. Nielsen
S. Kølvraa
Original investigation Pages: 322 - 326
Interaction between obesity and genetic polymorphisms in the apolipoprotein CIII gene and lipoprotein lipase gene on the risk of hypertriglyceridemia in Chinese
Y.-L. Ko
Yu-Shien Ko
Ying-Shiung Lee
Original investigation Pages: 327 - 333
A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region
C. A. Brandt
Hermann-Josef Lüdecke
Ursula Friedrich
Original investigation Pages: 334 - 338
CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles
C. Zühlke
Yorck Hellenbroich
Eberhard Schwinger
Original investigation Pages: 339 - 344
Loss of the PLA2G2A gene in a sporadic colorectal tumor of a patient with a PLA2G2A germline mutation and absence of PLA2G2A germline alterations in patients with FAP
Inko Nimmrich
Waltraut Friedl
O. Müller
Original investigation Pages: 345 - 349
The STR252 – IVS10nt546 – VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples
Francesco Calì
Irma Dianzani
V. Romano
Original investigation Pages: 350 - 355
The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene
M. H. van den Berg
Arthur A. M Wilde
Joep P. M. Geraedts
Original investigation Pages: 356 - 361
Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue
Y. Wang
W. Friedl
Peter Propping
Original investigation Pages: 362 - 364
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
T. Dörk
Bernd Dworniczak
Manfred Stuhrmann
Original investigation Pages: 365 - 377
Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21–q22
Henrik Arnell
Antal Nemeth
N. Dahl
Original investigation Pages: 378 - 381
Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64
Richard J. Sinke
Victoria E. H. Carlton
Roderick H. J. Houwen
Original investigation Pages: 382 - 387
Supernumerary nipples occurring together with Becker’s naevus: an association involving one common paradominant trait?
Carlo Enrico Urbani
Roberto Betti
Original investigation Pages: 388 - 390
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance
K. Silander
Päivi Meretoja
Marja-Liisa Savontaus
Original investigation Pages: 391 - 397
Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15
Lauréane Mittaz
Stylianos E. Antonarakis
H. S. Scott
Original investigation Pages: 398 - 400
Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH)
Jong-Chul Shin
Helen L. Ross
F. Z. Bischoff
Original investigation Pages: 401 - 406
Trinucleotide repeats (CGG)₂₂TGG(CGG)₄₃TGG(CGG)₂₁ from the fragile X gene remain stable in transgenic mice
Christian N. Lavedan
Lisa Garrett
R. L. Nussbaum
Original investigation Pages: 407 - 414
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy
T. Eggermann
Hartmut A. Wollmann
Michael B. Ranke
Original investigation Pages: 415 - 419
Angiotensin-converting enzyme (ACE) gene polymorphisms in patients characterised by coronary angiography
Carole A. Foy
Gillian I. Rice
P. J. Grant
Original investigation Pages: 420 - 425
Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome
D.-U. Kloos
S. Jakubiczka
P. Wieacker
Original investigation Pages: 426 - 430
Chromosomal instability in a woman with infertility and two unaffected brothers: a new familial chromosomal breakage syndrome?
H.-C. Duba
Harald G. Weirich
Gerd Utermann
Original investigation Pages: 431 - 440
Molecular cloning of the breakpoints of the hereditary persistence of fetal hemoglobin type-6 (HPFH-6) deletion and sequence analysis of the novel juxtaposed region from the 3′ end of the β-globin gene cluster
Theodoros Kosteas
Antonella Palena
N. P. Anagnou
Original investigation Pages: 441 - 445
Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene
T. P. Dryja
Jennifer F. Morrow
Joyce M. Rapaport
Original investigation Pages: 446 - 449
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients
H. Furuya
Yoh-ji Kukita
Takuro Kobayashi
Original investigation Pages: 450 - 456
Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant
Kazuhiko Namekata
Fumitaka Oyama
Y. Ihara
Original investigation Pages: 457 - 458
Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome
H. M. Hoag
S. A. M. Taylor
M. M. Khalifa
Original investigation Pages: 459 - 464
α-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations
K. L. Harteveld
Monique Losekoot
Luigi F. Bernini
Original investigation Pages: 465 - 471
Removal of repetitive sequences from FISH probes using PCR-assisted affinity chromatography
J. M. Craig
Jürgen Kraus
Thomas Cremer
Rapid communication Pages: 472 - 476
Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21
Nicholas Katsanis
Jonathan A. Beck
E. M. C. Fisher
Rapid communication Pages: 477 - 480
Mapping of the gene encoding the B56β subunit of protein phosphatase 2A (PPP2R5B) to a 0.5-Mb region of chromosome 11q13 and its exclusion as a candidate gene for multiple endocrine neoplasia type 1 (MEN1)
The European Consortium on MEN1
S. A. Forbes
K. Kas
Rapid communication Pages: 481 - 485
The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively
Catherine M. E. Cowley
Danijela Simrak
R. S. Buxton
Letter to the editors Pages: 486 - 488

Volume 100, Issue 3-4

Human centromeric DNAs

Identical mutations and phenotypic variation

Localisation of the classical DNA satellites on human chromosomes as determined by primed in situ labelling (PRINS)

Interaction between obesity and genetic polymorphisms in the apolipoprotein CIII gene and lipoprotein lipase gene on the risk of hypertriglyceridemia in Chinese

A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region

CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles

Loss of the PLA2G2A gene in a sporadic colorectal tumor of a patient with a PLA2G2A germline mutation and absence of PLA2G2A germline alterations in patients with FAP

The STR252 – IVS10nt546 – VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene

Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21–q22

Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64

Supernumerary nipples occurring together with Becker’s naevus: an association involving one common paradominant trait?

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15

Detection of chromosomal aneuploidy in endometriosis by multi-color fluorescence in situ hybridization (FISH)

Trinucleotide repeats (CGG)₂₂TGG(CGG)₄₃TGG(CGG)₂₁ from the fragile X gene remain stable in transgenic mice

Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy

Angiotensin-converting enzyme (ACE) gene polymorphisms in patients characterised by coronary angiography

Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome

Chromosomal instability in a woman with infertility and two unaffected brothers: a new familial chromosomal breakage syndrome?

Molecular cloning of the breakpoints of the hereditary persistence of fetal hemoglobin type-6 (HPFH-6) deletion and sequence analysis of the novel juxtaposed region from the 3′ end of the β-globin gene cluster

Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene

Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients

Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant

Evidence that skewed X inactivation is not needed for the phenotypic expression of Aicardi syndrome

α-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations

Removal of repetitive sequences from FISH probes using PCR-assisted affinity chromatography

Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21

Mapping of the gene encoding the B56β subunit of protein phosphatase 2A (PPP2R5B) to a 0.5-Mb region of chromosome 11q13 and its exclusion as a candidate gene for multiple endocrine neoplasia type 1 (MEN1)

The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively

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