Volume 93, Issue 3

Search all Human Genetics articles

March 1994

31 articles in this issue

Multicolor fluorescence in situ hybridization on metaphase chromosomes and interphase Halo-preparations using cosmid and YAC clones for the simultaneous high resolution mapping of deletions in the dystrophin gene
Chintana Tocharoentanaphol
Marion Cremer
Thomas Ried
Original Investigations Pages: 229 - 235
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix
David L. Rimoin
I. Merete Rasmussen
Daniel H. Cohn
Original Investigations Pages: 236 - 242
The utilization of interphase cytogenetic analysis for the detection of mosaicism
Brenda L. Lomax
Dagmar K. Kalousek
Holly Safavi
Original Investigations Pages: 243 - 247
Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome
Hiroki Kurahashi
Kenzo Akagi
Isamu Nishisho
Original Investigations Pages: 248 - 254
Molecular analysis of esterase D polymorphism
Shuichi Tsuchida
Emiko Fukui
Shigenori Ikemoto
Original Investigations Pages: 255 - 258
Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Elena Voskoboeva
Dirk Isbrandt
Christoph Peters
Original Investigations Pages: 259 - 264
Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema
John J. Bissler
Virginia H. Donaldson
Alvin E. Davis III
Original Investigations Pages: 265 - 269
Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues
Kazuhiro Tsukamoto
Yusuke Nakamura
Norio Niikawa
Original Investigations Pages: 270 - 274
The spatial localization of homologous chromosomes in human fibroblasts at mitosis
Andrew R. Leitch
James K. M. Brown
J. S. Heslop-Harrison
Original Investigations Pages: 275 - 280
Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death
L. Varesco
V. Gismondi
G. B. Ferrara
Original Investigations Pages: 281 - 286
Mutation screening by a combination of biotin-SSCP and direct sequencing
Amarjit S. Virdi
John A. Loughlin
Bryan C. Sykes
Original Investigations Pages: 287 - 290
Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1–22.2)
P. S. N. Rowe
J. Goulding
J. L. H. O'Riordan
Original Investigations Pages: 291 - 294
Chromosomal damage in sperm of patients surviving Hodgkin's disease following MOPP (nitrogen mustard, vincristine, procarbazine, and prednisone) therapy with and without radiotherapy
B. F. Brandriff
M. L. Meistrich
J. C. Liang
Original Investigations Pages: 295 - 299
A 13 base pair deletion in exon 1 of HPRT_Illinois forms a functional GUG initiation codon
Beverly L. Davidson
Nimrod Golovoy
Blake J. Roessler
Original Investigations Pages: 300 - 304
Linkage mapping of the spinal muscular atrophy gene
Arthur H. M. Burghes
Susan E. Ingraham
Jerry R. Mendell
Original Investigations Pages: 305 - 312
A multiple interval physical map of the pericentromeric region of human chromosome 10
A. Tunnacliffe
M. S. Jackson
B. A. J. Ponder
Original Investigations Pages: 313 - 318
Human familial and sporadic breast cancer: analysis of the coding regions of the 17β-hydroxysteroid dehydrogenase 2 gene (EDH17B2) using a single-strand conformation polymorphism assay
Arto Mannermaa
Hellevi Peltoketo
Reijo Vihko
Original Investigations Pages: 319 - 324
Prevalence of beta allele of the insulin gene in type II diabetes mellitus
Wanda Horst-Sikorska
Barbara Zoll
Ryszard Slomski
Original Investigations Pages: 325 - 328
Frequent polymorphism in exon 15 of the adenomatous polyposis coli gene
Stella M. Davies
Dale C. Snover
Original Investigations Pages: 329 - 330
Coamplification on chromosomes 7p12-13 and 9q12-13 identified by reverse chromosome painting in a glioblastoma multiforme
Ulrike Fischer
Bernd Wullich
Eckart Meese
Original Investigations Pages: 331 - 334
Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus
Elspeth C. Twist
Lindsay A. Farrer
Guy A. Rouleau
Original Investigations Pages: 335 - 338
Homozygosity for a mutation in the lipoprotein lipase gene (Gly¹³⁹→Ser) causes chylomicronaemia in a boy of Spanish descent
Saskia M. Bijvoet
Taco Bruin
John J. P. Kastelein
Original Investigations Pages: 339 - 343
Chronic childhood spinal muscular atrophy in Germany (West-Thüringen) — an epidemiological study
Andrea Thieme
Beate Mitulla
Aribert W. J. Spiegler
Original Investigations Pages: 344 - 346
Nuclear-encoded subunits of human cytochrome c oxidase: SstI restriction fragment length polymorphism
Suzanne A. Adjoa
Claude Bouchard
France T. Dionne
Short Communication Pages: 347 - 348
A new highly polymorphic DNA restriction site marker in the 5′ region of the human tyrosine hydroxylase gene (TH) detecting loss of heterozygosity in human embryonal rhabdomyosarcoma
Corinne Besnard-Guérin
Webster K. Cavenee
Irene Newsham
OriginalPaper Pages: 349 - 350
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene
Conxi Lázaro
Antonia Gaona
Xavier Estivill
OriginalPaper Pages: 351 - 352
An additional HpaII polymorphism in exon 2 of the human platelet membrane glycoprotein IIIa gene
Bruno Perichon
Sylvie Clemenceau
Rajagopal Krishnamoorthy
OriginalPaper Pages: 353 - 354
Insertion/deletion polymorphism within a polyadenylate stretch at the human atrial natriuretic peptides (hANP) gene locus
Rajendranath Ramasawmy
Chang Yong Lu
Rajagopal Krishnamoorthy
OriginalPaper Pages: 355 - 356
“Cryptic” dinucleotide polymorphism in the 3′ region of the factor IX gene shows substantial variation among different populations
Steve S. Sommer
Victoria L. Tillotson
Charyl M. Dutton
OriginalPaper Pages: 357 - 358
Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21
Assumpció Bosch
Stefan Wiemann
Xavier Estivill
OriginalPaper Pages: 359 - 360
Duplication of 1F and 1A2 genes in the vitamin D-binding protein (GC) system
Toshihiro Yasuda
Koichiro Kishi
Letters to the Editors Pages: 361 - 362

Volume 93, Issue 3

Multicolor fluorescence in situ hybridization on metaphase chromosomes and interphase Halo-preparations using cosmid and YAC clones for the simultaneous high resolution mapping of deletions in the dystrophin gene

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

The utilization of interphase cytogenetic analysis for the detection of mosaicism

Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome

Molecular analysis of esterase D polymorphism

Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema

Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues

The spatial localization of homologous chromosomes in human fibroblasts at mitosis

Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death

Mutation screening by a combination of biotin-SSCP and direct sequencing

Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1–22.2)

Chromosomal damage in sperm of patients surviving Hodgkin's disease following MOPP (nitrogen mustard, vincristine, procarbazine, and prednisone) therapy with and without radiotherapy

A 13 base pair deletion in exon 1 of HPRT_Illinois forms a functional GUG initiation codon

Linkage mapping of the spinal muscular atrophy gene

A multiple interval physical map of the pericentromeric region of human chromosome 10

Human familial and sporadic breast cancer: analysis of the coding regions of the 17β-hydroxysteroid dehydrogenase 2 gene (EDH17B2) using a single-strand conformation polymorphism assay

Prevalence of beta allele of the insulin gene in type II diabetes mellitus

Frequent polymorphism in exon 15 of the adenomatous polyposis coli gene

Coamplification on chromosomes 7p12-13 and 9q12-13 identified by reverse chromosome painting in a glioblastoma multiforme

Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus

Homozygosity for a mutation in the lipoprotein lipase gene (Gly¹³⁹→Ser) causes chylomicronaemia in a boy of Spanish descent

Chronic childhood spinal muscular atrophy in Germany (West-Thüringen) — an epidemiological study

Nuclear-encoded subunits of human cytochrome c oxidase: SstI restriction fragment length polymorphism

A new highly polymorphic DNA restriction site marker in the 5′ region of the human tyrosine hydroxylase gene (TH) detecting loss of heterozygosity in human embryonal rhabdomyosarcoma

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene

An additional HpaII polymorphism in exon 2 of the human platelet membrane glycoprotein IIIa gene

Insertion/deletion polymorphism within a polyadenylate stretch at the human atrial natriuretic peptides (hANP) gene locus

“Cryptic” dinucleotide polymorphism in the 3′ region of the factor IX gene shows substantial variation among different populations

Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21

Duplication of 1F and 1A2 genes in the vitamin D-binding protein (GC) system

Navigation