Volume 99, Issue 2

Search all Human Genetics articles

January 1997

30 articles in this issue

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1
R. L. Nussbaum
Bonnie M. Orrison
A. Craig Chinault
Original investigation Pages: 145 - 150
Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP
Masahiko Yamamoto
Takeshi Yasuda
G. Sobue
Original investigation Pages: 151 - 154
Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia
Jae Jin Chae
Young Bae Park
C. C. Lee
Original investigation Pages: 155 - 163
Intervention of somatic mutational events in vivo by a germline defect at the adenine phosphoribosyltransferase locus
M. Hakoda
Naoyuki Kamatani
Sadao Kashiwazaki
Original investigation Pages: 164 - 170
The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients
Atsushi Nishiyori
M. Yoshino
Masataka Mori
Original investigation Pages: 171 - 176
Genetic markers for glutamic acid decarboxylase do not predict insulin-dependent diabetes mellitus in pairs of affected siblings
Tina Rambrand
Flemming Pociot
The Danish Study Group of Diabetes in Childhood
Original investigation Pages: 177 - 185
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene
B. Edman Ahlbom
Muhammad Yaqoob
C. Wadelius
Original investigation Pages: 186 - 190
Analysis of helicase gene mutations in Japanese Werner’s syndrome patients
Makaoto Goto
Osamu Imamura
Y. Furuichi
Original investigation Pages: 191 - 193
Analysis of the allelic diversity of a (CA)n repeat polymorphism among α1-antitrypsin gene products from northern Portugal
J. Rocha
Dalila Pinto
Álvaro Aguiar
Original investigation Pages: 194 - 198
A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria
M. Daimon
Eishirou Gojyou
Hideo Sasaki
Original investigation Pages: 199 - 201
Polyclonal origin of medullary carcinoma of the thyroid in multiple endocrine neoplasia type 2
A. M. Ferraris
Rosa Mangerini
Furio Pacini
Original investigation Pages: 202 - 205
Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients
Vinita Singh
Shirish Sinha
B. Mittal
Original investigation Pages: 206 - 208
Somatic mosaicism for deletion of the entire NF1 gene identified by FISH
Bai-Lin Wu
Richard G. Boles
B. R. Korf
Original investigation Pages: 209 - 213
Chromosomal abnormalities in sperm from testicular cancer patients before and after chemotherapy
Renée H. Martin
Scott Ernst
Nancy Summers
Original investigation Pages: 214 - 218
Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria
N. E. Beck
I. P. M. Tomlinson
Walter F. Bodmer
Original investigation Pages: 219 - 224
Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1
L. Krols
Jean-Jacques Martin
C. Van Broeckhoven
Original investigation Pages: 225 - 232
Human hepatocyte nuclear factor-4 (hHNF-4) gene maps to 20q12–q13.1 between PLCG1 and D20S17
Alexandros Argyrokastritis
Smaragda Kamakari
N. K. Moschonas
Original investigation Pages: 233 - 236
The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions
H. Kehrer-Sawatzki
Jürgen Häussler
Günter Assum
Original investigation Pages: 237 - 247
A high-frequency polymorphism of NADH-cytochrome b5 reductase in African-Americans
Mary M. Jenkins
J. T. Prchal
Original investigation Pages: 248 - 250
Mutation detection in FGFR2 craniosynostosis syndromes
G. E. Hollway
Graeme K. Suthers
John C. Mulley
Original investigation Pages: 251 - 255
Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31–p22.13 region
A. Toutain
Nathalie Ronce
Claude Moraine
Original investigation Pages: 256 - 261
Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2
Haiming Chen
Stylianos E. Antonarakis
Original investigation Pages: 262 - 265
Determination of the origin of single nucleated cells in maternal circulation by means of random PCR and a set of length polymorphisms
F. von Eggeling
Susanne Michel
Uwe Claussen
Original investigation Pages: 266 - 270
Identification of novel Asian Indian and Japanese mutations causing β-thalassaemia in the Egyptian population
N. El-Hashemite
Mary Petrou
Joy D. A. Delhanty
Original investigation Pages: 271 - 274
Two novel PAH gene mutations detected in Italian phenylketonuric patients
Alessandra Argiolas
Paolo Bosco
V. Romano
Original investigation Pages: 275 - 278
Chromosomal localization of the type-I 15-PGDH gene to 4q34–q35
Franck Pichaud
Régis Delage-Mourroux
Marie-Françoise Rousseau-Merck
Original investigation Pages: 279 - 281
Transmission distortion of the mutant alleles in spinocerebellar ataxia
Olaf Riess
Jörg T. Epplen
L. Schöls
Rapid communication Pages: 282 - 284
Localization of genes encoding two human one-domain members of the AAA family: PSMC5 (the thyroid hormone receptor-interacting protein, TRIP1) and PSMC3 (the Tat-binding protein, TBP1)
Jacqueline Hoyle
Kim H. Tan
E. M. C. Fisher
Rapid communication Pages: 285 - 288
Noonan syndrome with cardiac left-sided obstructive lesions
Maria Cristina Digilio
B. Marino
Bruno Dallapiccola
Letter to the editors Pages: 289 - 289
Further clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner stigmata
T. Ogata
Tomonobu Hasegawa
Nobutake Matsuo
Letter to the editors Pages: 290 - 290

Volume 99, Issue 2

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1

Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP

Two partial deletion mutations involving the same Alu sequence within intron 8 of the LDL receptor gene in Korean patients with familial hypercholesterolemia

Intervention of somatic mutational events in vivo by a germline defect at the adenine phosphoribosyltransferase locus

The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients

Genetic markers for glutamic acid decarboxylase do not predict insulin-dependent diabetes mellitus in pairs of affected siblings

Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene

Analysis of helicase gene mutations in Japanese Werner’s syndrome patients

Analysis of the allelic diversity of a (CA)n repeat polymorphism among α1-antitrypsin gene products from northern Portugal

A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria

Polyclonal origin of medullary carcinoma of the thyroid in multiple endocrine neoplasia type 2

Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients

Somatic mosaicism for deletion of the entire NF1 gene identified by FISH

Chromosomal abnormalities in sperm from testicular cancer patients before and after chemotherapy

Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1–14.1

Human hepatocyte nuclear factor-4 (hHNF-4) gene maps to 20q12–q13.1 between PLCG1 and D20S17

The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions

A high-frequency polymorphism of NADH-cytochrome b5 reductase in African-Americans

Mutation detection in FGFR2 craniosynostosis syndromes

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31–p22.13 region

Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2

Determination of the origin of single nucleated cells in maternal circulation by means of random PCR and a set of length polymorphisms

Identification of novel Asian Indian and Japanese mutations causing β-thalassaemia in the Egyptian population

Two novel PAH gene mutations detected in Italian phenylketonuric patients

Chromosomal localization of the type-I 15-PGDH gene to 4q34–q35

Transmission distortion of the mutant alleles in spinocerebellar ataxia

Localization of genes encoding two human one-domain members of the AAA family: PSMC5 (the thyroid hormone receptor-interacting protein, TRIP1) and PSMC3 (the Tat-binding protein, TBP1)

Noonan syndrome with cardiac left-sided obstructive lesions

Further clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner stigmata

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