Works matching IS 00099163 AND DT 1998 AND VI 53 AND IP 3

Results: 21

Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 210, doi. 10.1111/j.1399-0004.1998.tb02679.x

By:

Tóth, Tamás;
Bókay, János;
Szönyi, László;
Nagy, Bálint;
Papp, Zoltán

Publication type:

Article

Polymorphisms at the angiotensinogen (AGT) and angiotensin II type 1 receptor (AT1R) loci and normal blood pressure.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 214, doi. 10.1111/j.1399-0004.1998.tb02680.x

By:

Berge, KE;
Berg, K.

Publication type:

Article

Serum lipids and apolipoprotein E phenotypes in identical twins reared apart.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 191, doi. 10.1111/j.1399-0004.1998.tb02675.x

By:

Kervinen, Kari;
Kaprio, Jaakko;
Koskenvuo, Markku;
Juntunen, Juhani;
Kesäniemi, Y Antero

Publication type:

Article

Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type la.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 184, doi. 10.1111/j.1399-0004.1998.tb02674.x

By:

Lam, Ching-Wan;
But, Wai-Man;
Shek, Chi-Chung;
Tong, Sui-Fan;
Chan, Yuen-Shan;
Choy, Kwong-Wai;
Tse, Wing-Yee;
Pang, Chi-Pui;
Hjelm, Nils Magnus

Publication type:

Article

Holoprosencephaly: from Homer to Hedgehog.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 155, doi. 10.1111/j.1399-0004.1998.tb02666.x

By:

Ming, Jeffrey E;
Muenke, Maximilian

Publication type:

Article

Deletion of chromosome 3q proximal region gives rise to a variable phenotype.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 220, doi. 10.1111/j.1399-0004.1998.tb02681.x

By:

Ogilvie, Caroline Mackie;
Rooney, Susan C;
Hodgson, Shirley V;
Berry, A Caroline

Publication type:

Article

Centromeric alphoid DNA heteromorphisms of chromosome 22 revealed by FISH-technique.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 231, doi. 10.1111/j.1399-0004.1998.tb02686.x

By:

Liehr, T.;
Pfeiffer, RA;
Trautmann, U.;
Gebhart, E.

Publication type:

Article

Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 202, doi. 10.1111/j.1399-0004.1998.tb02677.x

By:

Arduino, C.;
Ferrone, M.;
Brusco, A.;
Garnerone, S.;
Fontana, D.;
Rolle, L.;
Carbonara, AO

Publication type:

Article

The new face of an old villain - cholesterol.

Published in:: Clinical Genetics, 1998, v. 53, n. 3, p. 172, doi. 10.1111/j.1399-0004.1998.tb02670.x
Publication type:: Article

A novel point mutation associated with alkaptonuria.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 228, doi. 10.1111/j.1399-0004.1998.tb02684.x

By:

Higashino, Kazuya;
Liu, Weidong;
Ohkawa, Toshihisa;
Yamamoto, Tetsuya;
Fukui, Kohya;
Ohno, Masao;
Imanishi, Hiroyasu;
Iwasaki, Arata;
Ammo, Yoshiki;
Hada, Toshikuzu

Publication type:

Article

Developmental Biology: Frontiers for Clinical Genetics: Overgrowth syndromes and genomie imprinting: from mouse to man.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 165, doi. 10.1111/j.1399-0004.1998.tb02668.x

By:

Li, M.;
Squire, JA;
Weksberg, R.

Publication type:

Article

Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 176, doi. 10.1111/j.1399-0004.1998.tb02672.x

By:

Adams, Paul C

Publication type:

Article

Chimerism detected by an unbalanced chromosome translocation: an alternative hypothesis.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 230, doi. 10.1111/j.1399-0004.1998.tb02685.x

By:

Cotter, Philip D.;
Hirschhorn, Kurt

Publication type:

Article

A novel missense mutation (402C → T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 205, doi. 10.1111/j.1399-0004.1998.tb02678.x

By:

Hertz, Jens Michael;
Hansen, Karen Nørgaard;
Juncker, Inger;
Kjeldsen, Margrethe;
Gregersen, Niels

Publication type:

Article

Normal growth in Angelman syndrome due to paternal UPD.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 223, doi. 10.1111/j.1399-0004.1998.tb02682.x

By:

Smith, A.;
Robson, L.;
Buchholz, B.

Publication type:

Article

Developmental Biology: Frontiers for Clinical Genetics.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 164, doi. 10.1111/j.1399-0004.1998.tb02667.x

By:

McInnes, Roderick R

Publication type:

Article

Duchenne mouse knocked out by two blows.

Published in:: Clinical Genetics, 1998, v. 53, n. 3, p. 171, doi. 10.1111/j.1399-0004.1998.tb02669.x
Publication type:: Article

The intermediate alleles of the fragile X CGG repeat in patients with mental retardation.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 200, doi. 10.1111/j.1399-0004.1998.tb02676.x

By:

Mornet, Etienne;
Chateau, Corinne;
Simon-Bouy, Brigitte;
Serre, Jean-Louis

Publication type:

Article

A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 226, doi. 10.1111/j.1399-0004.1998.tb02683.x

By:

Man, A.;
Amati, F.;
Conti, E.;
Bengala, M.;
Novelli, G.;
Dallapiccola, B.

Publication type:

Article

DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome.

Published in:

Clinical Genetics, 1998, v. 53, n. 3, p. 179, doi. 10.1111/j.1399-0004.1998.tb02673.x

By:

Chan, SY;
Wong, V.

Publication type:

Article

Defects in the human homolog of Drosophila diaphanous in non-syndromic deafness.

Published in:: Clinical Genetics, 1998, v. 53, n. 3, p. 174, doi. 10.1111/j.1399-0004.1998.tb02671.x
Publication type:: Article