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Volume 90; Issue 1-2
Main
Human Genetics
Volume 90; Issue 1-2
Human Genetics
Volume 90; Issue 1-2
1
Oocyte selection: a new model for the maternal-age dependence of Down syndrome
Chang-Jiang Zheng
,
Breck Byers
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 650 KB
Your tags:
english, 1992
2
Plasminogen with type-I mutation is polymorphic in the Japanese population
Shuichi Kikuchi
,
Yasuko Yamanouchi
,
Liming Li
,
Kimiko Kobayashi
,
Hiroshi Ijima
,
Ryunosuke Miyazaki
,
Shigeru Tsuchiya
,
Hideo Hamaguchi
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 656 KB
Your tags:
english, 1992
3
Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA
C. S. Mgone
,
W. G. Lanyon
,
M. R. Moore
,
J. M. Connor
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 586 KB
Your tags:
english, 1992
4
Molecular and genetic characterization and physical mapping of 11 new markers detecting multiallele restriction fragment length polymorphisms on the short arm of human chromosome 3
Farida Latif
,
William S. Modi
,
Fuh-Mei Duh
,
Laura Schmidt
,
Hua Li
,
Laura Geil
,
Mary Lou Orcutt
,
Amanda Heppell-Parton
,
Pamela H. Rabbitts
,
W. Marston Linehan
,
Berton Zbar
,
Michael I. Lerman
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 1.61 MB
Your tags:
english, 1992
5
Characterization of hypervariable locus-specific probes derived from a (CAC)5/(GTG)5multilocus fingerprint in various Eurasian populations
J. Hundrieser
,
P. Nürnberg
,
A. E. Czeizel
,
Julia Métneki
,
Siegrid Rothgänger
,
H. Zischler
,
J. T. Epplen
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 949 KB
Your tags:
english, 1992
6
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
Michael Krawczak
,
Jochen Reiss
,
David N. Cooper
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 1.35 MB
Your tags:
english, 1992
7
Polymerase chain reaction analysis of fragile X mutations
Susan H. Erster
,
W. Ted Brown
,
Ponmani Goonewardena
,
Carl S. Dobkin
,
Edmund C. Jenkins
,
Robert G. Pergolizzi
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 1.97 MB
Your tags:
english, 1992
8
Detection of GST1 gene deletion by the polymerase chain reaction and its possible correlation with stomach cancer in Japanese
Shoji Harada
,
Shogo Misawa
,
Takako Nakamura
,
Naomi Tanaka
,
Ei Ueno
,
Mutsumi Nozoe
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 309 KB
Your tags:
english, 1992
9
Molecular genetic analysis of 67 patients with duchenne/becker muscular dystrophy
Susanne Niemann-Seyde
,
Ryszard Slomski
,
Frauke Rininsland
,
Ute Ellermeyer
,
Jolanta Kwiatkowska
,
Jochen Reiss
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 723 KB
Your tags:
english, 1992
10
Significance of the clonal and sporadic chromosome abnormalities in non-neoplastic renal tissue
R. Casalone
,
P. Granata Casalone
,
E. Minelli
,
P. Portentoso
,
R. Righi
,
E. Meroni
,
A. Giudici
,
D. Donati
,
C. Riva
,
S. Salvatore
,
A. V. Bono
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 659 KB
Your tags:
english, 1992
11
The murine Rb(6.16) translocation: alterations in the proportion of alternate sperm segregants effecting fertilization in vitro and in vivo
Catherine A. Chayko
,
Patricia A. Martin-DeLeon
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 752 KB
Your tags:
english, 1992
12
Variable number of tandem repeat (VNTR) polymorphism at locus D17S5 (YNZ22) in four ethnically defined human populations
Ranjan Deka
,
Susan DeCroo
,
Ling Mei Yu
,
Robert E. Ferrell
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 763 KB
Your tags:
english, 1992
13
A genetic model for the Prader-Willi syndrome and its implication for angelman syndrome
Ingo Kennerknecht
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 944 KB
Your tags:
english, 1992
14
A genetic study of the human low-voltage electroencephalogram
Andrej Anokhin
,
Ortrud Steinlein
,
Christine Fischer
,
Yiping Mao
,
Peter Vogt
,
Edda Schalt
,
Friedrich Vogel
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 1.35 MB
Your tags:
english, 1992
15
Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12–q21
André Reis
,
Wolfgang Küster
,
Ralf Eckardt
,
Karl Sperling
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 611 KB
Your tags:
english, 1992
16
Mitochondrial gene segregation in mammals: is the bottleneck always narrow?
Neil Howell
,
S. Halvorson
,
I. Kubacka
,
D. A. McCullough
,
L. A. Bindoff
,
D. M. Turnbull
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 388 KB
Your tags:
english, 1992
17
A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY
Ken McElreavey
,
Raphaël Rappaport
,
Eric Vilain
,
Nacer Abbas
,
François Richaud
,
Stéphen Lortat-Jacob
,
Roland Berger
,
Maryvonne LeConiat
,
Chafika Boucekkine
,
Kiran Kucheria
,
Samia Temtamy
,
Claire Nihoul
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 549 KB
Your tags:
english, 1992
18
Different chromosomal localization of two adenylyl cyclase genes expressed in human brain
D. Stengel
,
J. Parma
,
M. -H. Gannagé
,
N. Roeckel
,
M. -G. Mattei
,
R. Barouki
,
J. Hanoune
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 1.04 MB
Your tags:
english, 1992
19
No association between RFLPs at the porphobilinogen deaminase gene and schizophrenia
M. J. Owen
,
R. Mant
,
E. Parfitt
,
J. Williams
,
P. Asherson
,
G. O'Mahoney
,
J. Os
,
D. Llewellyn
,
D. Collier
,
M. Gill
,
P. McGuffin
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 227 KB
Your tags:
english, 1992
20
Commingling and segregation analysis of serum uric acid in five North American populations: the Lipid Research Clinics family study
Treva Rice
,
Peter M. Laskarzewski
,
Tammy S. Perry
,
D. C. Rao
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 647 KB
Your tags:
english, 1992
21
Molecular genotyping ofN-acetylation polymorphism to predict phenotype
Masami Mashimo
,
Tomokazu Suzuki
,
Masako Abe
,
Takeo Deguchi
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 572 KB
Your tags:
english, 1992
22
The QM gene is X-linked and therefore not involved in suppression of tumorigenesis in Wilms' tumor
Ans M. W. Ouweland
,
Marian Verdijk
,
Marcel M. A. M. Mannens
,
Bernard A. Oost
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 349 KB
Your tags:
english, 1992
23
CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene
Susan J. Ramus
,
Susan M. Forrest
,
Jennifer A. Saleeba
,
Richard G. H. Cotton
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 360 KB
Your tags:
english, 1992
24
Significantly higher frequency of theMspI 2.2 kb allele of the Duchenne muscular dystrophy intragenic probe P-20 in the Chinese population
Jianjun Wei
,
Yishou Guo
,
Bingxi Chen
,
Yaping Yang
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 313 KB
Your tags:
english, 1992
25
Chromosome aberrations in 450 sperm complements from eight controls and lack of increase after chemotherapy in two patients
J. Jenderny
,
M. L. Jacobi
,
A. Rüger
,
G. Röhrborn
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 299 KB
Your tags:
english, 1992
26
Haplotype distribution and mutations at the PAH locus in Croatia
Ivo Barić
,
Duško Mardešić
,
Gorjana Gjurić
,
Vladimir Samavka
,
Barbara Göbel-Schreiner
,
Uta Lichter-Konecki
,
David S. Konecki
,
Friedrich K. Trefz
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 309 KB
Your tags:
english, 1992
27
Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred
Daniel R. Jacobson
,
C. Julian Rosenthal
,
Joel N. Buxbaum
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 429 KB
Your tags:
english, 1992
28
Frequent polymorphism in the 13th exon of the adenomatous polyposis coli gene
S. Olschwang
,
P. Laurent-Puig
,
B. Thuille
,
G. Thomas
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 406 KB
Your tags:
english, 1992
29
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene
J. Bonaventure
,
C. Philippe
,
G. Plessis
,
J. Vigneron
,
C. Lasselin
,
P. Maroteaux
,
S. Gilgenkrantz
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 1.02 MB
Your tags:
english, 1992
30
De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene
A. L. Schwarzman
,
A. Kowalska
,
J. Rujner
,
M. S. Vlasov
,
V. S. Gaitskhoki
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 208 KB
Your tags:
english, 1992
31
Sperm chromosome analysis of two males heterozygous for a t(2;17)(q35;p13) and t(3;8)(p13;p21) reciprocal translocation
J. Jenderny
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 315 KB
Your tags:
english, 1992
32
Mapping of the human COL5A1 gene to chromosome 9q34.3
G. Caridi
,
Annalisa Pezzolo
,
Roberta Bertelli
,
G. Gimelli
,
A. DiDonato
,
G. Candiano
,
G. M. Ghiggeri
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 397 KB
Your tags:
english, 1992
33
Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation
Yuji Yokoyama
,
Kouji Narahara
,
Kazushiro Tsuji
,
Shinsuke Ninomiya
,
Yoshiki Seino
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 315 KB
Your tags:
english, 1992
34
Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosamimiria
Kunihiro Yoshida
,
Nobuo Yanagisawa
,
Akihiro Oshima
,
Hitoshi Sakuraba
,
Yôichi Iida
,
Yoshiyuki Suzuki
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 268 KB
Your tags:
english, 1992
35
Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant
L. Diekmann
,
K. Palm
,
R. A. Pfeiffer
,
U. Trautmann
,
W. Scholz
,
E. Schroers
,
P. Vogt
,
M. Köhler
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 409 KB
Your tags:
english, 1992
36
Two new alleles in the tetranucleotide repeat polymorphism at the lipoprotein lipase (LPL) locus
Young I. Ahn
,
M. Ilyas Kamboh
,
Robert E. Ferrell
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 97 KB
Your tags:
english, 1992
37
Rearrangements of the X chromosome and Turner syndrome
M. Crocker
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 234 KB
Your tags:
english, 1992
38
Huntington disease in black African populations
E. M. Scrimgeour
,
S. A. Simpson
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 225 KB
Your tags:
english, 1992
39
Letters to the editors
Y. Chamla
,
H. Rivera
,
M. G. Domínguez
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 224 KB
Your tags:
english, 1992
40
Chromosome 1 in human colorectal tumors
E. Gebhart
,
D. Rau
,
S. Neubauer
,
T. Dingermann
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 335 KB
Your tags:
english, 1992
41
Premature centromere division
Peter H. Fitzgerald
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 239 KB
Your tags:
english, 1992
42
Involvement of 3:1 disjunction in the common reciprocal translocation t(11;22)(q23.3;q11.2)
Ann C. Chandley
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 143 KB
Your tags:
english, 1992
43
Proving paternity of children with deceased fathers
Päivi Helminen
,
Vivian Johnsson
,
Christian Ehnholm
,
Leena Peltonen
Journal:
Human Genetics
Year:
1992
File:
PDF, 15 KB
Your tags:
1992
44
Announcements
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 70 KB
Your tags:
english, 1992
45
Analysis of the 5′ flanking sequence of the Gγ globin gene by denaturing gradient gel electrophoresis confirms the heterogeneity of the Bantu βshaplotype
G. Tachdjian
,
M. Benabdennebi
,
C. Guidal
,
C. Sayada
,
C. Lapouméroulie
,
J. Elion
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 677 KB
Your tags:
english, 1992
46
Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy
Jeffrey A. Kuller
,
Eric P. Hoffman
,
Melissa H. Fries
,
Mitchell S. Golbus
Journal:
Human Genetics
Year:
1992
Language:
english
File:
PDF, 1.68 MB
Your tags:
english, 1992
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