Works matching IS 00099163 AND DT 1997 AND VI 51 AND IP 3

Results: 14

Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 174, doi. 10.1111/j.1399-0004.1997.tb02448.x

By:

Laitinen, Arja;
Hietala, Marja;
Haworth, James C.;
Schroeder, Marlis L;
Seargeant, Lome E.;
Greenberg, Cheryl R.;
Aula, Pertti

Publication type:

Article

Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 153, doi. 10.1111/j.1399-0004.1997.tb02445.x

By:

Payne, Y.;
Williams, M.;
Cheadle, J.;
Stott, N. C. H.;
Rowlands, M.;
Shickle, D.;
West, G.;
Meredith, L;
Goodchild, M.;
Harper, P. S.;
Clarke, A.

Publication type:

Article

De novo duplication of 12pter → p12.1: clinical and cytogenetic diagnosis confirmed by chromosome painting.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 205, doi. 10.1111/j.1399-0004.1997.tb02454.x

By:

Back, E.;
Kratzer, W.;
Zeitler, S.;
Schempp, W.

Publication type:

Article

Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 164, doi. 10.1111/j.1399-0004.1997.tb02446.x

By:

Fryns, Jean-Pierre;
Verresen, Herman;
Berghe, Herman

Publication type:

Article

Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 179, doi. 10.1111/j.1399-0004.1997.tb02449.x

By:

Okubo, Minoru;
Aoyama, Yoshiko;
Kishimoto, Masahiko;
Shishiba, Yoshimasa;
Murase, Toshio

Publication type:

Article

Clinical manifestation of a severe neonatal progeroid syndrome.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 200, doi. 10.1111/j.1399-0004.1997.tb02453.x

By:

Mégarbané, André;
Loiselet, Jacques

Publication type:

Article

Deletion polymorphism in the angiotensin-converting enzyme gene is not associated with hypertension in a Gulf Arab population.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 211, doi. 10.1111/j.1399-0004.1997.tb02455.x

By:

Frossard, P. M.;
Obineche, E. N.;
Elshahat, Y. I.;
Lestringant, G. G.

Publication type:

Article

Genetic mapping using fluorescent quantification of allele frequencies in pooled DNA loaded by solid support.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 145, doi. 10.1111/j.1399-0004.1997.tb02444.x

By:

Graff, Caroline;
Persson, Anja;
Ulfendahi, Per Johan;
Wahlberg, Johan;
Wadelius, Claes

Publication type:

Article

Delineation of a ring chromosome 16 by the FISH-technique: a case report with review.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 196, doi. 10.1111/j.1399-0004.1997.tb02452.x

By:

Conte, Robert A.;
Kleyman, Svetlana M.;
Kharode, Chaula;
Verma, Ram S.

Publication type:

Article

Short Communication: Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G ← T and the 711 + 1G ← T mutations.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 214, doi. 10.1111/j.1399-0004.1997.tb02456.x

By:

Braekeleer, Marc De;
Simard, Fernand;
Aubin, Gervais

Publication type:

Article

A study of possible deleterious effects of consanguinity.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 167, doi. 10.1111/j.1399-0004.1997.tb02447.x

By:

Abdulrazzaq, Y. M.;
Bener, A.;
Al-Gazali, L I.;
Al-Khayat, A. I.;
Micallef, R.;
Gaber, T.

Publication type:

Article

A novel point mutation (Pro84 ← Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 191, doi. 10.1111/j.1399-0004.1997.tb02451.x

By:

Vuorio, Alpo F.;
Turtola, Hannu;
Kontula, Kimmo

Publication type:

Article

Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.

Published in:

Clinical Genetics, 1997, v. 51, n. 3, p. 184, doi. 10.1111/j.1399-0004.1997.tb02450.x

By:

Patsalis, Philippos C.;
Hadjimarcou, Michael I.;
Velissariou, Voula;
Kitsiou-Tzeli, Sophia;
Zera, Christina;
Syrrou, Maria;
Lyberatou, Evangelia;
Tsezou, Aspasia;
Galla, Angeliki;
Skordis, Nicos

Publication type:

Article

Announcements.

Published in:: Clinical Genetics, 1997, v. 51, n. 3, p. 217, doi. 10.1111/j.1399-0004.1997.tb02457.x
Publication type:: Article