Volume 106, Issue 3

Search all Human Genetics articles

March 2000

19 articles in this issue

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
T. Dörk
M. Macek Jr
J. Zielenski
Original Investigation Pages: 259 - 268
SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome
H.P. Wilmore
M.J. Smith
A.H. Sinclair
Original Investigation Pages: 269 - 276
Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation
A. Iida
M. Emi
Y. Nakamura
Original Investigation Pages: 277 - 287
Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population
Y. Ohnishi
T. Tanaka
Y. Nakamura
Original Investigation Pages: 288 - 292
Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population
R. Yamada
T. Tanaka
Y. Nakamura
Original Investigation Pages: 293 - 297
Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene ( ψ GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
M. Takayanagi
S. Kure
K. Narisawa
Original Investigation Pages: 298 - 305
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features
M. Adachi
K. Tachibana
T. Ogata
Original Investigation Pages: 306 - 310
Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients
Katharina Wimmer
Markus Eckart
Christa Fonatsch
Original Investigation Pages: 311 - 313
Association between M467T and 114 C→A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain
M. Guillén
D. Corella
J. Hernández-Yago
Original Investigation Pages: 314 - 320
The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3
G. Richard
N. Brown
J. Uitto
Original Investigation Pages: 321 - 329
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations
E. Mornet
J.-F. Gibrat
Original Investigation Pages: 330 - 339
Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21
F. Muller
M. Rebiffé
E. Mornet
Original Investigation Pages: 340 - 344
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs
N.J. Prescott
M.M. Lees
S. Malcolm
Original Investigation Pages: 345 - 350
Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22
A.R. Afzal
A. Rajab
S. Jeffery
Original Investigation Pages: 351 - 354
Segregation analysis of serum uric acid in the NHLBI Family Heart Study
J.B. Wilk
L. Djousse
R.H. Myers
Original Investigation Pages: 355 - 359
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A)
L. Orozco
R. Velázquez
A. Carnevale
Original Investigation Pages: 360 - 365
A fragile X case with an amplification/deletion mosaic pattern
D. García Arocena
Y. de Diego
M. Mirta Rodriguez
Original Investigation Pages: 366 - 369
Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection
M. Huizing
Y. Anikster
W.A. Gahl
Short report Pages: 370 - 373
British Human Genetics Conference¶Including a One-Day Joint Symposium "Technologics in Genome Analysis" with the Genetical Society on Wednesday 13 September
Announcement Pages: 383 - 383

Volume 106, Issue 3

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome

Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation

Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population

Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population

Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene ( ψ GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

Association between M467T and 114 C→A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain

The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3

A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations

Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21

Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

Segregation analysis of serum uric acid in the NHLBI Family Heart Study

Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A)

A fragile X case with an amplification/deletion mosaic pattern

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection

British Human Genetics Conference¶Including a One-Day Joint Symposium "Technologics in Genome Analysis" with the Genetical Society on Wednesday 13 September

Navigation