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Volume 106; Issue 3
Main
Human Genetics
Volume 106; Issue 3
Human Genetics
Volume 106; Issue 3
1
Characterization of a novel 21-kb deletion, CFTRdele2,3(21
T. Dörk
,
M. Macek Jr
,
F. Mekus
,
B. Tümmler
,
J. Tzountzouris
,
T. Casals
,
A. Krebsová
,
M. Koudová
,
I. Sakmaryová
,
M. Macek Sr
,
V. Vávrová
,
D. Zemková
,
E. Ginter
,
N.V. Petrova
,
T. Ivaschenko
,
V. Baranov
,
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 356 KB
Your tags:
english, 2000
2
SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome
H.P. Wilmore
,
M.J. Smith
,
S.A. Wilcox
,
K.M. Bell
,
A.H. Sinclair
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 255 KB
Your tags:
english, 2000
3
Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation
A. Iida
,
M. Emi
,
R. Matsuoka
,
E. Hiratsuka
,
K. Okui
,
H. Ohashi
,
J. Inazawa
,
Y. Fukushima
,
T. Imai
,
Y. Nakamura
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 447 KB
Your tags:
english, 2000
4
Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population
Y. Ohnishi
,
T. Tanaka
,
R. Yamada
,
K. Suematsu
,
M. Minami
,
K. Fujii
,
N. Hoki
,
K. Kodama
,
S. Nagata
,
T. Hayashi
,
N. Kinoshita
,
H. Sato
,
H. Sato
,
T. Kuzuya
,
H. Takeda
,
M. Hori
,
Y. Nakamura
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 117 KB
Your tags:
english, 2000
5
Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population
R. Yamada
,
T. Tanaka
,
Y. Ohnishi
,
K. Suematsu
,
M. Minami
,
T. Seki
,
M. Yukioka
,
A. Maeda
,
N. Murata
,
O. Saiki
,
R. Teshima
,
O. Kudo
,
K. Ishikawa
,
A. Ueyosi
,
H. Tateishi
,
M. Inaba
,
H. Goto
,
Y. Nishizawa
,
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 33 KB
Your tags:
english, 2000
6
Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (?GLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
M. Takayanagi
,
S. Kure
,
Y. Sakata
,
Y. Kurihara
,
Y. Ohya
,
M. Kajita
,
K. Tada
,
Y. Matsubara
,
K. Narisawa
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 493 KB
Your tags:
english, 2000
7
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features
M. Adachi
,
K. Tachibana
,
Y. Asakura
,
K. Muroya
,
T. Ogata
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 351 KB
Your tags:
english, 2000
8
Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients
Katharina Wimmer
,
Markus Eckart
,
Helga Rehder
,
Christa Fonatsch
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 185 KB
Your tags:
english, 2000
9
Association between M467T and 114 C?A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain
M. Guillén
,
D. Corella
,
M.L. Cabello
,
A.M. García
,
O. Portolés
,
J. Hernández-Yago
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 49 KB
Your tags:
english, 2000
10
The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3
G. Richard
,
N. Brown
,
L.E. Smith
,
A. Terrinoni
,
G. Melino
,
R.M. MacKie
,
S.J. Bale
,
J. Uitto
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 377 KB
Your tags:
english, 2000
11
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations
E. Mornet
,
J.-F. Gibrat
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 530 KB
Your tags:
english, 2000
12
Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21
F. Muller
,
M. Rebiffé
,
A. Taillandier
,
J.-F. Oury
,
E. Mornet
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 40 KB
Your tags:
english, 2000
13
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs
N.J. Prescott
,
M.M. Lees
,
R.M. Winter
,
S. Malcolm
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 47 KB
Your tags:
english, 2000
14
Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22
A.R. Afzal
,
A. Rajab
,
C. Fenske
,
A. Crosby
,
N. Lahiri
,
E. Ternes-Pereira
,
V.A. Murday
,
R. Houlston
,
M.A. Patton
,
S. Jeffery
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 24 KB
Your tags:
english, 2000
15
Segregation analysis of serum uric acid in the NHLBI Family Heart Study
J.B. Wilk
,
L. Djousse
,
I. Borecki
,
L.D. Atwood
,
S.C. Hunt
,
S.S. Rich
,
J.H. Eckfeldt
,
D.K. Arnett
,
D.C. Rao
,
R.H. Myers
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 40 KB
Your tags:
english, 2000
16
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G?A)
L. Orozco
,
R. Velázquez
,
J. Zielenski
,
L.-C. Tsui
,
M. Chávez
,
J.L. Lezana
,
Y. Saldaña
,
E. Hernández
,
A. Carnevale
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 153 KB
Your tags:
english, 2000
17
A fragile X case with an amplification/deletion mosaic pattern
D. García Arocena
,
Y. de Diego
,
B.A. Oostra
,
R. Willemsen
,
M. Mirta Rodriguez
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 160 KB
Your tags:
english, 2000
18
Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection
M. Huizing
,
Y. Anikster
,
W.A. Gahl
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 236 KB
Your tags:
english, 2000
19
British Human Genetics Conference¶Including a One-Day Joint Symposium "Technologics in Genome Analysis" with the Genetical Society on Wednesday 13 September
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 6 KB
Your tags:
english, 2000
20
SOX14is a candidate gene for limb defects associated with BPES and Möbius syndrome
H.P. Wilmore,M.J. Smith,S.A. Wilcox,K.M. Bell,A.H. Sinclair
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 255 KB
Your tags:
english, 2000
21
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs
N.J. Prescott,M.M. Lees,R.M. Winter,S. Malcolm
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 47 KB
Your tags:
english, 2000
22
Linkage of recessive Robinow syndrome to a 4
A.R. Afzal,A. Rajab,C. Fenske,A. Crosby,N. Lahiri,E. Ternes-Pereira…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 24 KB
Your tags:
english, 2000
23
Segregation analysis of serum uric acid in the NHLBI Family Heart Study
J.B. Wilk,L. Djousse,I. Borecki,L.D. Atwood,S.C. Hunt,S.S. Rich…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 40 KB
Your tags:
english, 2000
24
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A)
L. Orozco,R. Velázquez,J. Zielenski,L.-C. Tsui,M. Chávez,J.L. Lezana…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 153 KB
Your tags:
english, 2000
25
Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation
A. Iida,M. Emi,R. Matsuoka,E. Hiratsuka,K. Okui,H. Ohashi…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 447 KB
Your tags:
english, 2000
26
Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population
Y. Ohnishi,T. Tanaka,R. Yamada,K. Suematsu,M. Minami,K. Fujii…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 117 KB
Your tags:
english, 2000
27
Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population
R. Yamada,T. Tanaka,Y. Ohnishi,K. Suematsu,M. Minami,T. Seki…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 33 KB
Your tags:
english, 2000
28
Illegitimate splicing of theNF1gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients
Katharina Wimmer,Markus Eckart,Helga Rehder,Christa Fonatsch
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 185 KB
Your tags:
english, 2000
29
Human glycine decarboxylase gene (GLDC)and its highly conserved processed pseudogene(ψGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia
M. Takayanagi,S. Kure,Y. Sakata,Y. Kurihara,Y. Ohya,M. Kajita…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 493 KB
Your tags:
english, 2000
30
Association between M467T and 114
M. Guillén,D. Corella,M.L. Cabello,A.M. García,O. Portolés…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 49 KB
Your tags:
english, 2000
31
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features
M. Adachi,K. Tachibana,Y. Asakura,K. Muroya,T. Ogata
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 351 KB
Your tags:
english, 2000
32
Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome geneHPS-1; relevance for mutation detection
M. Huizing,Y. Anikster,W.A. Gahl
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 236 KB
Your tags:
english, 2000
33
A fragile
D. García Arocena,Y. de Diego,B.A. Oostra,R. Willemsen…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 160 KB
Your tags:
english, 2000
34
The spectrum of mutations in erythrokeratodermias – novel and de novo mutations inGJB3
G. Richard,N. Brown,L.E. Smith,A. Terrinoni,G. Melino,R.M. MacKie…
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 377 KB
Your tags:
english, 2000
35
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations
E. Mornet,J.-F. Gibrat
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 530 KB
Your tags:
english, 2000
36
Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21
F. Muller,M. Rebiffé,A. Taillandier,J.-F. Oury,E. Mornet
Journal:
Human Genetics
Year:
2000
Language:
english
File:
PDF, 40 KB
Your tags:
english, 2000
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