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Volume 106; Issue 1
Main
Human Genetics
Volume 106; Issue 1
Human Genetics
Volume 106; Issue 1
1
Congenital cataracts: gene mapping
Weigong He
,
Shibo Li
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2000
2
Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII
M.L. Raff
,
W.J. Craigen
,
L.T. Smith
,
D.R. Keene
,
P.H. Byers
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 614 KB
Your tags:
english, 2000
3
Incidence of mosaic cell lines in vivo and malsegregation of chromosome 21 in lymphocytes in vitro of trisomy 21 patients: detection by fluorescence in situ hybridization on binucleated lymphocytes
Q. Shi
,
I.-D. Adler
,
J. Zhang
,
X. Zhang
,
X. Shan
,
R. Martin
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 112 KB
Your tags:
english, 2000
4
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation
M.J. Friez
,
F.B. Essop
,
A. Krause
,
L. Castiglia
,
A. Ragusa
,
K. Sossey-Alaoui
,
R.L. Nelson
,
M.M. May
,
R.C. Michaelis
,
A.K. Srivastava
,
C.E. Schwartz
,
R.E. Stevenson
,
A. Goldman
,
L. Villard
,
J.W. Longsh
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 32 KB
Your tags:
english, 2000
5
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
R. Rabionet
,
L. Zelante
,
N. López-Bigas
,
L. D'Agruma
,
S. Melchionda
,
G. Restagno
,
M.L. Arbonés
,
P. Gasparini
,
X. Estivill
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 36 KB
Your tags:
english, 2000
6
Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats
B. Pertl
,
A. Sekizawa
,
O. Samura
,
I. Orescovic
,
P.T. Rahaim
,
D.W. Bianchi
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 149 KB
Your tags:
english, 2000
7
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13
N. Katsanis
,
S. Venable
,
J.R. Smith
,
J.R. Lupski
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 211 KB
Your tags:
english, 2000
8
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
R.F. Schumacher
,
P. Mella
,
R. Badolato
,
M. Fiorini
,
G. Savoldi
,
S. Giliani
,
A. Villa
,
F. Candotti
,
A. Tampalini
,
J.J. O'Shea
,
L.D. Notarangelo
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 88 KB
Your tags:
english, 2000
9
An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype
Y. Koda
,
M. Soejima
,
P.H. Johnson
,
E. Smart
,
H. Kimura
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 312 KB
Your tags:
english, 2000
10
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan
M. Okubo
,
A. Horinishi
,
M. Takeuchi
,
Y. Suzuki
,
N. Sakura
,
Y. Hasegawa
,
T. Igarashi
,
K. Goto
,
H. Tahara
,
S. Uchimoto
,
K. Omichi
,
H. Kanno
,
K. Hayasaka
,
T. Murase
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 295 KB
Your tags:
english, 2000
11
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families
Y. Miura
,
S. Mardy
,
Y. Awaya
,
K. Nihei
,
F. Endo
,
I. Matsuda
,
Y. Indo
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 159 KB
Your tags:
english, 2000
12
Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene
J.-M. Chen
,
C. Ferec
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 45 KB
Your tags:
english, 2000
13
Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADDandGALN) by affected sibpair and linkage-disequilibrium analyses
S. Eckenrode
,
M.P. Marron
,
R. Nicholls
,
M.C.K. Yang
,
J.J. Yang
,
L.C. Guida Fonseca
,
J.-X. She
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 49 KB
Your tags:
english, 2000
14
Genomic rearrangements of theAPCtumor-suppressor gene in familial adenomatous polyposis
L.-K. Su
,
G. Steinbach
,
J.C. Sawyer
,
M. Hindi
,
P.A. Ward
,
P.M. Lynch
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 320 KB
Your tags:
english, 2000
15
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
M. De Castro
,
J. García-Planells
,
E. Monrós
,
J. Cañizares
,
R. Vázquez-Manrique
,
J.J. Vílchez
,
M. Urtasun
,
M. Lucas
,
G. Navarro
,
G. Izquierdo
,
M.D. Moltó
,
F. Palau
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 200 KB
Your tags:
english, 2000
16
Application of different genetic distance methods to microsatellite data
G. Destro-Bisol
,
G. Spedini
,
V.L. Pascali
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 56 KB
Your tags:
english, 2000
17
Genetic distances and microsatellite diversification in humans
F. Calafell
,
A. Pérez-Lezaun
,
J. Bertranpetit
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 44 KB
Your tags:
english, 2000
18
Physical mapping of the humanATX1homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to theSPARCgene
J. Boultwood
,
A.J. Strickson
,
E.W. Jabs
,
J.-F. Cheng
,
C. Fidler
,
J.S. Wainscoat
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 80 KB
Your tags:
english, 2000
19
Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype
C. Turner
,
N.R. Dennis
,
D.H. Skuse
,
P.A. Jacobs
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 183 KB
Your tags:
english, 2000
20
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine theCYLDlocus on chromosome 16q12–q13
M. Takahashi
,
E. Rapley
,
P.J. Biggs
,
S.R Lakhani
,
D. Cooke
,
J. Hansen
,
E. Blair
,
B. Hofmann
,
R. Siebert
,
G. Turner
,
D.G. Evans
,
C. Schrander-Stumpel
,
F.A. Beemer
,
W.A. van Vloten
,
M.H. Breuning
,
A. va
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 127 KB
Your tags:
english, 2000
21
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
T. Sobe
,
S. Vreugde
,
H. Shahin
,
M. Berlin
,
N. Davis
,
M. Kanaan
,
Y. Yaron
,
A. Orr-Urtreger
,
M. Frydman
,
M. Shohat
,
K.B. Avraham
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 303 KB
Your tags:
english, 2000
22
Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats
B. Pertl,A. Sekizawa,O. Samura,I. Orescovic,P.T. Rahaim,D.W. Bianchi
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 149 KB
Your tags:
english, 2000
23
Congenital cataracts: gene mapping
Weigong He,Shibo Li
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2000
24
Molecular basis of childhood deafness resulting from mutations in theGJB2(connexin
R. Rabionet,L. Zelante,N. López-Bigas,L. D'Agruma,S. Melchionda…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 36 KB
Your tags:
english, 2000
25
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type
M. Okubo,A. Horinishi,M. Takeuchi,Y. Suzuki,N. Sakura,Y. Hasegawa…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 295 KB
Your tags:
english, 2000
26
Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type
M.L. Raff,W.J. Craigen,L.T. Smith,D.R. Keene,P.H. Byers
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 614 KB
Your tags:
english, 2000
27
Incidence of mosaic cell lines in vivo and malsegregation of chromosome
Q. Shi,I.-D. Adler,J. Zhang,X. Zhang,X. Shan,R. Martin
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 112 KB
Your tags:
english, 2000
28
Complete genomic organization of the humanJAK3gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
R.F. Schumacher,P. Mella,R. Badolato,M. Fiorini,G. Savoldi…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 88 KB
Your tags:
english, 2000
29
Evidence that a dodecamer duplication in the geneHOPAin Xq13 is not associated with mental retardation
M.J. Friez,F.B. Essop,A. Krause,L. Castiglia,A. Ragusa…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 32 KB
Your tags:
english, 2000
30
Mutation and polymorphism analysis of theTRKA (NTRK1)gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families
Y. Miura,S. Mardy,Y. Awaya,K. Nihei,F. Endo,I. Matsuda,Y. Indo
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 159 KB
Your tags:
english, 2000
31
Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene
J.-M. Chen,C. Ferec
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 45 KB
Your tags:
english, 2000
32
AnAlu-mediated large deletion of theFUT2gene in individuals with the ABO-Bombay phenotype
Y. Koda,M. Soejima,P.H. Johnson,E. Smart,H. Kimura
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 312 KB
Your tags:
english, 2000
33
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
T. Sobe,S. Vreugde,H. Shahin,M. Berlin,N. Davis,M. Kanaan,Y. Yaron…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 303 KB
Your tags:
english, 2000
34
Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13
N. Katsanis,S. Venable,J.R. Smith,J.R. Lupski
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 211 KB
Your tags:
english, 2000
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