Volume 106; Issue 3

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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:

Year:

2000

Language:

english

File:

PDF, 356 KB

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:

Year:

2000

Language:

english

File:

PDF, 255 KB

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:

Year:

2000

Language:

english

File:

PDF, 447 KB

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:

Year:

2000

Language:

english

File:

PDF, 117 KB

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:

Year:

2000

Language:

english

File:

PDF, 33 KB

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:

Year:

2000

Language:

english

File:

PDF, 493 KB

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:

Year:

2000

Language:

english

File:

PDF, 351 KB

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:

Year:

2000

Language:

english

File:

PDF, 185 KB

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:

Year:

2000

Language:

english

File:

PDF, 49 KB

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:

Year:

2000

Language:

english

File:

PDF, 377 KB

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:

Year:

2000

Language:

english

File:

PDF, 530 KB

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:

Year:

2000

Language:

english

File:

PDF, 40 KB

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:

Year:

2000

Language:

english

File:

PDF, 47 KB

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:

Year:

2000

Language:

english

File:

PDF, 24 KB

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:

Year:

2000

Language:

english

File:

PDF, 40 KB

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:

Year:

2000

Language:

english

File:

PDF, 153 KB

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:

Year:

2000

Language:

english

File:

PDF, 160 KB

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:

Year:

2000

Language:

english

File:

PDF, 236 KB

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:

Year:

2000

Language:

english

File:

PDF, 6 KB

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:

Year:

2000

Language:

english

File:

PDF, 255 KB

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:

Year:

2000

Language:

english

File:

PDF, 47 KB

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:

Year:

2000

Language:

english

File:

PDF, 24 KB

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:

Year:

2000

Language:

english

File:

PDF, 40 KB

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:

Year:

2000

Language:

english

File:

PDF, 153 KB

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:

Year:

2000

Language:

english

File:

PDF, 447 KB

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:

Year:

2000

Language:

english

File:

PDF, 117 KB

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:

Year:

2000

Language:

english

File:

PDF, 33 KB

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:

Year:

2000

Language:

english

File:

PDF, 185 KB

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:

Year:

2000

Language:

english

File:

PDF, 493 KB

english, 2000

30

Association between M467T and 114

M. Guillén,D. Corella,M.L. Cabello,A.M. García,O. Portolés…

Journal:

Year:

2000

Language:

english

File:

PDF, 49 KB

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:

Year:

2000

Language:

english

File:

PDF, 351 KB

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:

Year:

2000

Language:

english

File:

PDF, 236 KB

english, 2000

33

A fragile

D. García Arocena,Y. de Diego,B.A. Oostra,R. Willemsen…

Journal:

Year:

2000

Language:

english

File:

PDF, 160 KB

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:

Year:

2000

Language:

english

File:

PDF, 377 KB

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:

Year:

2000

Language:

english

File:

PDF, 530 KB

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:

Year:

2000

Language:

english

File:

PDF, 40 KB

english, 2000