Works matching IS 00099163 AND DT 1996 AND VI 50 AND IP 5

Results: 30

De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22→22.1).

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 426, doi. 10.1111/j.1399-0004.1996.tb02401.x

By:

Franz, H. B.G.;
Schliephacke, M.;
Niemann, G.;
Mielke, G.;
Backsch, C.

Publication type:

Article

Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 417, doi. 10.1111/j.1399-0004.1996.tb02399.x

By:

Boon, Catherine;
Wlarkello, Tom;
Jackson-Cook, Colleen;
Pandya, Arti

Publication type:

Article

A case of pycnodysostosis with growth hormone deficiency.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 422, doi. 10.1111/j.1399-0004.1996.tb02400.x

By:

Darcan, Siikran;
Akisü, Mete;
Taneli, Baha;
Kendir, Gaye

Publication type:

Article

Short Report on DNA Marker at Candidate Locus: Dinucleotide polymorphism in the first intron of the human neuronal nicotinic acetylcholine receptor α4 subunit gene (CHRNA4).

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 433, doi. 10.1111/j.1399-0004.1996.tb02403.x

By:

Welland, S.;
Steinlein, O.

Publication type:

Article

Cerebral defects confirm midline developmental field disturbances in supernumerary der(22), t(11;22) syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 411, doi. 10.1111/j.1399-0004.1996.tb02398.x

By:

Pallotta, R.;
Fusilli, P.;
Ehresmann, T.;
Cinti, R.;
Verrotti, A.;
Morgese, G.

Publication type:

Article

Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 317, doi. 10.1111/j.1399-0004.1996.tb02381.x

By:

Erics, M.;
Balci, Sevim;
Atakan, Nilgün

Publication type:

Article

High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 327, doi. 10.1111/j.1399-0004.1996.tb02383.x

By:

Sinha, S.;
Mishra, S.;
Singh, V.;
Mittal, R. D.;
Mittal, B.

Publication type:

Article

Apolipoprotein E.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 293, doi. 10.1111/j.1399-0004.1996.tb02377.x

By:

Schmidt, H.;
Schmidt, R.;
Fazekas, F.;
Semmler, J.;
Kapeller, P.;
Reinhart, B.;
Kostner, G. M.

Publication type:

Article

Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: a new syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 403, doi. 10.1111/j.1399-0004.1996.tb02396.x

By:

Boneh, Avihu;
Glick, Benjamin;
Gutman, Alisa;
Mogle, Paul

Publication type:

Article

Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 398, doi. 10.1111/j.1399-0004.1996.tb02395.x

By:

Pot, M. L. H.;
Giltay, J.C.;
Wilsen, A.;
Breslau-Siderius, E. J.

Publication type:

Article

Trisomy 13/trisomy 18 mosaicism in an infant.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 300, doi. 10.1111/j.1399-0004.1996.tb02378.x

By:

Abe, K.;
Itoh, N. HaradaU;
Hirakawa, O.;
Niikawa, N.

Publication type:

Article

Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 380, doi. 10.1111/j.1399-0004.1996.tb02392.x

By:

Bayés, M.;
Marímez-Mir, A.;
Valverde, D.;
Río, E.;
Vilageliu, L.;
Grinberg, D.;
Balcells, S.;
Ayuso, C.;
Baiget, M.;
Gonzàlez-Duarte, R.

Publication type:

Article

Report of a new case of axial mesodermal dysplasia complex.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 407, doi. 10.1111/j.1399-0004.1996.tb02397.x

By:

Bini, R.;
Danti, D. A.;
Materassi, M.;
Pela, I.

Publication type:

Article

Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 304, doi. 10.1111/j.1399-0004.1996.tb02379.x

By:

Lund, Allan M.;
Schwartz, Marianne;
Skovby, Flemming

Publication type:

Article

Familial Alzheimer's disease co-segregates with a Met 146 Ile substitution in presenilin-1.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 281, doi. 10.1111/j.1399-0004.1996.tb02375.x

By:

Jørgensen, Poul;
Bus, Claus;
Pallisgaard, Niels;
Bryder, Marianne;
Jørgensen, Arne Lund

Publication type:

Article

Routine clinical application of the FRAXA Pfu PCR assay: limits and utility.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 366, doi. 10.1111/j.1399-0004.1996.tb02389.x

By:

Condorelli, D. F.;
Milana, G.;
Dell'Albani, P.;
Roccazzello, A. M.;
Insirello, E.;
Pavone, L.;
Mollica, F.

Publication type:

Article

Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 348, doi. 10.1111/j.1399-0004.1996.tb02386.x

By:

Inoue, Kyoko;
Suzuki, Yasuyuki;
Yajima, Shigehiro;
Shimozawa, Nobuyuki;
Tomatsu, Shunji;
Orii, Tadao;
Kondo, Naomi

Publication type:

Article

Phenotypic characterization of a patient homozygous for the D558N LDL receptor gene mutation.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 388, doi. 10.1111/j.1399-0004.1996.tb02393.x

By:

Jensen, H. K.;
Jensen, L. G.;
Heath, F.;
Melsen, F.;
Hansen, P. S.;
Meinertz, H.;
Bolund, L.;
Gregersen, N.;
Færgeman, O.

Publication type:

Article

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 310, doi. 10.1111/j.1399-0004.1996.tb02380.x

By:

Diggelen, O.P.;
Zaremba, J.;
He, Wang;
Keulemans, J. L. M.;
Boer, A. M.;
Reuser, A. J. J.;
Ausems, M. G. E. M.;
Smeitink, J. A. M.;
Kowalczyk, J.;
Pronicka, E.;
Rokicki, D.;
Tarnowska-Dziduszko, E.;
Kneppers, A. L. J.;
Bakker, E.

Publication type:

Article

Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 321, doi. 10.1111/j.1399-0004.1996.tb02382.x

By:

Chen, Chih-Ping;
Liu, Fen-Fen;
Jan, Sheau-Wen;
Lin, Chen-Li;
Lan, Chung-Chi

Publication type:

Article

Short Report on DNA Marker at Candidate Locus.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 435, doi. 10.1111/j.1399-0004.1996.tb02404.x

By:

Davis, Darren R.;
Johnson, Anthony G.

Publication type:

Article

Cord blood immunoglobulin E in like-sexed monozygotic and dizygotic twins.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 332, doi. 10.1111/j.1399-0004.1996.tb02384.x

By:

Husby, S.;
Holm, N. V.;
Christensen, K.;
Skov, R.;
Morling, N.;
Petersen, P. H.

Publication type:

Article

Is intensive follow-up for early detection of tumors effective in children with Beckwith-Wiedemann syndrome?

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 372, doi. 10.1111/j.1399-0004.1996.tb02390.x

By:

Cataldo, Andrea Di;
Haupt, Riccardo;
Fabietti, Paola;
Schilirò, Gino

Publication type:

Article

Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 393, doi. 10.1111/j.1399-0004.1996.tb02394.x

By:

Schworm, H.D.;
Jedele, K. B.;
Holinski, E.;
Hörtnagel, K.;
Rudolph, G.;
Boergen, K.-P.;
Kampik, A.;
Meitinger, T.

Publication type:

Article

Genomic distribution of 5' TTCCA 3' repeat motif and its diagnostic potential in human Y-chromosome-related anomalies.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 358, doi. 10.1111/j.1399-0004.1996.tb02388.x

By:

Bala, Shasht;
Ahmad, Jamal;
Ali, Sher

Publication type:

Article

Frequencies of five genetic polymorphisms in coronarographed patients and effects on lipid levels in a supposedly healthy population.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 339, doi. 10.1111/j.1399-0004.1996.tb02385.x

By:

Régis-Bailly, Anne;
Visvikis, Sophie;
Steinmetz, Josiane;
Feldmann, Luc;
Briançon, Serge;
Danchin, Nicolas;
Zannad, Faiez;
Siest, Gérad

Publication type:

Article

Subtle translocation (18;21) confirmed by FISH in a patient with Down syndrome.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 430, doi. 10.1111/j.1399-0004.1996.tb02402.x

By:

Knight, L. A.;
Yong, M.H.;
Tan, M.;
LNg, I. S.

Publication type:

Article

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogical study of Swedish families of probable Finnish background.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 353, doi. 10.1111/j.1399-0004.1996.tb02387.x

By:

Nylander, P.-O.;
Drugge, U.;
Holmgren, G.;
Adolfsson, R.

Publication type:

Article

Glycerol kinase deficiency in two brothers with and without clinical manifestations.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 375, doi. 10.1111/j.1399-0004.1996.tb02391.x

By:

Blomquist, Hans K:son;
Dahl, Niklas;
Gustafsson, Lars;
Heilerud, Christina;
Holme, Elisabeth;
Holmgren, Gösta;
Matsson, Lars;
Zweigbergk, Monika

Publication type:

Article

Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.

Published in:

Clinical Genetics, 1996, v. 50, n. 5, p. 287, doi. 10.1111/j.1399-0004.1996.tb02376.x

By:

Tylki-Szymanska, Anna;
Berger, Johannes;
Löschl, Beate;
Lugowska, Agnieszka;
Molzer, Brunhilde

Publication type:

Article