Volume 87, Issue 2

Search all Human Genetics articles

June 1991

36 articles in this issue

Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques
Wim Van Hul
Hubert Backhovens
Christine Van Broeckhoven
Original Investigations Pages: 109 - 111
Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion
Julie R. Korenberg
Dagmar K. Kalousek
David R. Cox
Original Investigations Pages: 112 - 118
Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency
Onno E. Janssen
Kyoko Takeda
Samuel Refetoff
Original Investigations Pages: 119 - 122
Paracentric inversion of chromosome 15(q15q24): description of three families
Elvira D'Alessandro
Corinna De Matteis
Giuseppe DelPorto
Original Investigations Pages: 123 - 124
Screening for a prevalent LDL receptor mutation in patients with severe hypercholesterolaemia
Markku J. Savolainen
Taina Korhonen
Y. Antero Kesäniemi
Original Investigations Pages: 125 - 128
Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family
Shrawan Kumar
William J. Kimberling
Judy B. Kenyon
Original Investigations Pages: 129 - 133
A sterile male with 45,X0 and a Y;22 translocation
Joachim Arnemann
Susanne Schnittger
Ingo Hansmann
Original Investigations Pages: 134 - 138
Cytogenetic analysis reveals clonal proliferation of smooth muscle cells in atherosclerotic plaques
R. Casalone
P. Granata
B. Frigerio
Original Investigations Pages: 139 - 143
Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF1)
Dieter Kaufmann
Suzanne Wiandt
Winfrid Krone
Original Investigations Pages: 144 - 150
Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28
Anthonie J. van Essen
Klaas Kok
Charles H. C. M. Buys
Original Investigations Pages: 151 - 154
An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy
Wolfgang Bohne
Kurt von Figura
Volkmar Gieselmann
Original Investigations Pages: 155 - 158
Exclusion of linkage to the pericentromeric region of chromosome 21 in the Canadian pedigree with familial Alzheimer disease
S. -M. Pulst
P. Fain
J. R. Korenberg
Original Investigations Pages: 159 - 161
The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q
Clair A. Francomano
Garry R. Cutting
Stylianos E. Antonarakis
Original Investigations Pages: 162 - 166
Cysteine in the triple helical domain of the proα2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta
Daniel H. Cohn
Peter H. Byers
Original Investigations Pages: 167 - 172
The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)]
L. Hills
E. Earle
K. H. Choo
Original Investigations Pages: 173 - 176
CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series
Shi-Han Chen
Min Zhang
Arthur R. Thompson
Original Investigations Pages: 177 - 182
Constitutional extra chromosomal element in a family with Wilms' tumor
S. Kakati
H. Xiao
J. E. Allen
Original Investigations Pages: 183 - 188
The human kininogen gene (KNG) mapped to chromosome 3q26-qter by analysis of somatic cell hybrids using the polymerase chain reaction
Dunne Fong
David I. Smith
Wang-Ting Hsieh
Original Investigations Pages: 189 - 192
Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen α2(I) chain
A. C. Nicholls
J. Oliver
F. M. Pope
Original Investigations Pages: 193 - 198
Evidence of selective interaction between adenosine deaminase and acid phosphatase polymorphisms in fetuses carried by diabetic women
E. Bottini
G. Gerlini
F. Gloria-Bottini
Original Investigations Pages: 199 - 200
Localization of the cellular retinoic acid binding protein (CRABP) gene relative to the acute promyelocytic leukemia-associated breakpoint on human chromosome 15
A. Geurts van Kessel
H. de Leeuw
M. J. Vaessen
Original Investigations Pages: 201 - 204
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II — Hunter syndrome)
James E. Wraith
Alan Cooper
John J. Hopwood
Original Investigations Pages: 205 - 206
Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus
Gladys M. Glenn
Lambert N. Daniel
Berton Zbar
Original Investigations Pages: 207 - 210
The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy
Xun-ling Zhang
Mohammad A. Rafi
David A. Wenger
Original Investigations Pages: 211 - 215
DNA diagnosis of hydatidiform mole using the polymerase chain reaction
Ryuichi Fukuyama
Mizuho Takata
Nobuyoshi Shimizu
Short Communications Pages: 216 - 218
The length polymorphism in the 5′ flanking region of the human β-globin gene with denaturing gradient gel electrophoresis in a Japanese population
Norio Takahashi
Keiko Hiyama
Chiyoko Satoh
Short Communications Pages: 219 - 220
Mapping of the ribophorin II (RPN II) gene to human chromosome 20q12–q13.1 by in-situ hybridization
Christiane Löffler
V. V. N. Gopal Rao
Ingo Hansmann
Short Communications Pages: 221 - 222
Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation
N. Morrison
D. A. Nickson
R. G. Sutcliffe
Short Communications Pages: 223 - 225
Chromosomal assignment of a large tRNA gene cluster (tRNA^Leu, tRNA^Gln, tRNA^Lys, tRNA^Arg, tRNA^Gly) to 17p13.1
N. Morrison
J. P. Goddard
J. M. Connor
Short Communications Pages: 226 - 230
The gene for the type 1 tumor necrosis factor receptor (TNF-R1) is localized on band 12p13
Josette Derré
Oliver Kemper
David Wallach
Short Communications Pages: 231 - 233
Deletion mapping of interval 6 of the human Y chromosome
Maciej Kotecki
Jadwiga Jaruzelska
Piotr Fichna
Short Communications Pages: 234 - 236
A new δ chain variant hemoglobin A₂-Corfu or α₂δ₂ 116 Arg→Cys (G18), detected by δ-globin gene analysis in a Greek family
Georgios Loudianos
Stefania Murru
Mario Pirastu
Short Communications Pages: 237 - 238
Triple trisomy in a 17-week-old fetus
Mark J. Pettenati
Nagesh Rao
Clinical Case Report Pages: 239 - 240
A third allele of the PstI RFLP at DXS94
M. Oehler
E. Schwinger
A. Gal
DNA Variants Pages: 241 - 241
Letters to the Editor
Erica M. Bühler
Letter Pages: 242 - 242
Reply to letter by E.M. Bühler
Paulo S. Martinho
Priscilla G. Otto
Letters to the Editors Pages: 243 - 244

Volume 87, Issue 2

Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency

Paracentric inversion of chromosome 15(q15q24): description of three families

Screening for a prevalent LDL receptor mutation in patients with severe hypercholesterolaemia

Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family

A sterile male with 45,X0 and a Y;22 translocation

Cytogenetic analysis reveals clonal proliferation of smooth muscle cells in atherosclerotic plaques

Increased melanogenesis in cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF1)

Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28

An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy

Exclusion of linkage to the pericentromeric region of chromosome 21 in the Canadian pedigree with familial Alzheimer disease

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q

Cysteine in the triple helical domain of the proα2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta

The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)]

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series

Constitutional extra chromosomal element in a family with Wilms' tumor

The human kininogen gene (KNG) mapped to chromosome 3q26-qter by analysis of somatic cell hybrids using the polymerase chain reaction

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen α2(I) chain

Evidence of selective interaction between adenosine deaminase and acid phosphatase polymorphisms in fetuses carried by diabetic women

Localization of the cellular retinoic acid binding protein (CRABP) gene relative to the acute promyelocytic leukemia-associated breakpoint on human chromosome 15

The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II — Hunter syndrome)

Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus

The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy

DNA diagnosis of hydatidiform mole using the polymerase chain reaction

The length polymorphism in the 5′ flanking region of the human β-globin gene with denaturing gradient gel electrophoresis in a Japanese population

Mapping of the ribophorin II (RPN II) gene to human chromosome 20q12–q13.1 by in-situ hybridization

Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation

Chromosomal assignment of a large tRNA gene cluster (tRNA^Leu, tRNA^Gln, tRNA^Lys, tRNA^Arg, tRNA^Gly) to 17p13.1

The gene for the type 1 tumor necrosis factor receptor (TNF-R1) is localized on band 12p13

Deletion mapping of interval 6 of the human Y chromosome

A new δ chain variant hemoglobin A₂-Corfu or α₂δ₂ 116 Arg→Cys (G18), detected by δ-globin gene analysis in a Greek family

Triple trisomy in a 17-week-old fetus

A third allele of the PstI RFLP at DXS94

Letters to the Editor

Reply to letter by E.M. Bühler

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