Volume 95, Issue 5

Search all Human Genetics articles

May 1995

31 articles in this issue

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot
Francesca Amati
Aldo Mari
Bruno Dallapiccola
Original Investigation Pages: 479 - 482
Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods
Hisashi Kobayashi
Tara Cox Matise
Eric P. Hoffman
Original Investigation Pages: 483 - 490
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)
Sandro Muntoni
Heiko Wiebusch
Gerd Assmann
Original Investigation Pages: 491 - 494
Molecular analysis redefines three human chromosome 14 deletions
Richard F. Wintle
Teresa Costa
Diane W. Cox
Original Investigation Pages: 495 - 500
Molecular patterns and sequence polymorphisms in the red and green visual pigment genes of Japanese men
Samir S. Deeb
Angeles Alvarez
Arno G. Motulsky
Original Investigation Pages: 501 - 506
Characterization of mutants of the vitamin D-binding protein/group-specific component: molecular evolution of GC^*1A2 and GC^*1A3, common in some Asian populations
I. Yuasa
A. Kofler
H. Cleve
Original Investigation Pages: 507 - 512
Genomic organization of human complement protein C8α and further examination of its linkage to C8β
Gregory A. Michelotti
James V. Snider
James M. Sodetz
Original Investigation Pages: 513 - 518
Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8
Daniele DeBrasi
Maurizio Genuardi
Giovanni Neri
Original Investigation Pages: 519 - 525
Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer
Antonino Giambona
Pina Lo Gioco
Aurelio Maggio
Original Investigation Pages: 526 - 530
Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype
Sanjay I. Bidichandani
W. George Lanyon
J. Michael Connor
Original Investigation Pages: 531 - 538
Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer
R. S. Cornells
H. F. A. Vasen
P. Devilee
Original Investigation Pages: 539 - 544
Linkage analysis of 26 Canadian breast and breast-ovarian cancer families
Patricia Tonin
Roxanna Moslehi
Steven A. Narod
Original Investigation Pages: 545 - 550
Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect
Hiltrud Brauch
Takeshi Kishida
Hartmut P. H. Neumann
Original Investigation Pages: 551 - 556
α-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins
Toshika Okumiya
Satoshi Ishii
Yoshiyuki Suzuki
Original Investigation Pages: 557 - 561
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)
Ans M. W. van den Ouweland
Mieke N. van der Est
Dicky J. J. Halley
Original Investigation Pages: 562 - 567
A molecular and cytogenetic study in Finnish Prader-Willi patients
Hannaleena Kokkonen
Marketta Kähkönen
Jaakko Leisti
Original Investigation Pages: 568 - 571
Eleven novel mutations in the NF2 tumour suppressor gene
David Bourn
Gareth Evans
Tom Strachan
Short Communication Pages: 572 - 574
Number and sex of offspring of ΔF508 carriers outside cystic fibrosis families
H. G. de Vries
J. M. Collée
L. P. Ten Kate
Short Communication Pages: 575 - 576
Refinement of the locus for X-linked recessive chondrodysplasia punctata
Koji Muroya
Tsutomu Ogata
Nobutake Matsuo
Short Communication Pages: 577 - 580
Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body proportion
G. I. Baroncelli
S. Bertelloni
G. Saggese
Clinical Case Report Pages: 581 - 585
No linkage to the 3β-HSD gene cluster in a kindred affected with 3β-hydroxy-Δ⁵-C₂₇steroid dehydrogenase deficiency and early onset hepatic failure
Alan Russell
Hisham Nazer
Roger Sutcliffe
Clinical Case Report Pages: 586 - 588
A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND
R. F. Kooy
E. Verlind
D. N. Shapiro
OriginalPaper Pages: 589 - 589
Identification of variable length polyadenosine tract at the dystrophin locus
Sylvie Tuffery
Philippe Moine
Mireille Claustres
OriginalPaper Pages: 590 - 592
Tetra-/di-nucleotide repeat polymorphism upstream of the human α2-globin gene locus at 16p13.3
Alexandros Argyrokastritis
Nicholas K. Moschonas
OriginalPaper Pages: 593 - 593
Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS)
R. E. Schnur
P. A. Wick
OriginalPaper Pages: 594 - 595
Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1
Assumpció Bosch
Jordi Guimerà
Xavier Estivill
OriginalPaper Pages: 596 - 598
A new biallelic DNA polymorphism of the human COL5A1 gene
Francesca Cappa
Gianluca Caridi
Gian Marco Ghiggeri
OriginalPaper Pages: 599 - 600
Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q
Miguel Viribay
Dolores Tellería
José L. San Millán
OriginalPaper Pages: 601 - 602
A new polymorphism in the gene for the dopamine D2 receptor
S. E. Poduslo
J. Schwankhaus
OriginalPaper Pages: 603 - 604
Polymorphisms of the Prion Protein gene in italian patients with Creutzfeldt-Jakob disease
Mirella Salvatore
Maurizio Genuardi
Maurizio Pocchiari
Erratum Pages: 605 - 605
Announcements

Announcement Pages: 606 - 606

Volume 95, Issue 5

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

Molecular analysis redefines three human chromosome 14 deletions

Molecular patterns and sequence polymorphisms in the red and green visual pigment genes of Japanese men

Characterization of mutants of the vitamin D-binding protein/group-specific component: molecular evolution of GC^1A2 and GC^1A3, common in some Asian populations

Genomic organization of human complement protein C8α and further examination of its linkage to C8β

Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8

Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype

Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer

Linkage analysis of 26 Canadian breast and breast-ovarian cancer families

Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect

α-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)

A molecular and cytogenetic study in Finnish Prader-Willi patients

Eleven novel mutations in the NF2 tumour suppressor gene

Number and sex of offspring of ΔF508 carriers outside cystic fibrosis families

Refinement of the locus for X-linked recessive chondrodysplasia punctata

Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body proportion

No linkage to the 3β-HSD gene cluster in a kindred affected with 3β-hydroxy-Δ⁵-C₂₇steroid dehydrogenase deficiency and early onset hepatic failure

A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND

Identification of variable length polyadenosine tract at the dystrophin locus

Tetra-/di-nucleotide repeat polymorphism upstream of the human α2-globin gene locus at 16p13.3

Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS)

Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1

A new biallelic DNA polymorphism of the human COL5A1 gene

Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q

A new polymorphism in the gene for the dopamine D2 receptor

Polymorphisms of the Prion Protein gene in italian patients with Creutzfeldt-Jakob disease

Announcements

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