Works matching IS 00099163 AND DT 1986 AND VI 29 AND IP 2

Results: 26

Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 174, doi. 10.1111/j.1399-0004.1986.tb01245.x

By:

Bowen, Peter;
Pabst, Henry;
Berry, David;
Collins-Nakai, Ruth;
Hoo, Joe J.

Publication type:

Article

Determination of the acetylator phenotype in a Turkish population.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 185, doi. 10.1111/j.1399-0004.1986.tb01250.x

By:

Şardas, Semra;
Karakaya, Ali Esat;
Cok, Ismet

Publication type:

Article

Evidence for preferential involvement of chromosome bands 6p21 and 13q14 in amniotic fluid cell balanced translocation pseudomosaicism.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 116, doi. 10.1111/j.1399-0004.1986.tb01233.x

By:

Benn, Peter A.;
Hsu, Lillian Y. F.

Publication type:

Article

A simple technique for recording and counting sweat pores on the dermal ridges.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 122, doi. 10.1111/j.1399-0004.1986.tb01234.x

By:

O'Leary, E.;
Slaney, J.;
Bryant, D. G.;
Fraser, F. C.

Publication type:

Article

X-linked short stature with skin pigmentation: evidence for heterogeneity of the Russell-Silver syndrome.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 151, doi. 10.1111/j.1399-0004.1986.tb01240.x

By:

Partington, M. W.

Publication type:

Article

Cerebral gigantism with hydronephrosis: a case report.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 178, doi. 10.1111/j.1399-0004.1986.tb01246.x

By:

Adam, Khalifa Abdel Rahim;
Frayh, Abdul Rahman Salih Al;
Sharma, Arvind;
Taha, Salah Ali

Publication type:

Article

Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 133, doi. 10.1111/j.1399-0004.1986.tb01236.x

By:

Allanson, Judith;
Austin, William;
Hecht, Frederick

Publication type:

Article

Chorion in culture.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 104, doi. 10.1111/j.1399-0004.1986.tb01231.x

By:

Procter, Susan E.;
Watt, Jessie L.;
Gray, Elizabeth S.

Publication type:

Article

Osteoporosis-pseudoglioma or osteogenesis imperfecta?

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 184, doi. 10.1111/j.1399-0004.1986.tb01249.x

By:

Superti-Furga, Dr. A.;
Steinmann, Dr. B.;
Perfumo, Dr. F.

Publication type:

Article

Clinical and genetic studies of muscular dystrophy in young girls.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 137, doi. 10.1111/j.1399-0004.1986.tb01237.x

By:

Yoshioka, Mieko;
Itagaki, Yasuko;
Saida, Kyoko;
Nishitani, Yutaka

Publication type:

Article

Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 108, doi. 10.1111/j.1399-0004.1986.tb01232.x

By:

Boyd, Y.;
Buckle, V. J.

Publication type:

Article

Announcement.

Published in:: Clinical Genetics, 1986, v. 29, n. 2, p. 188, doi. 10.1111/j.1399-0004.1986.tb01252.x
Publication type:: Article

Ocular osteogenesis imperfecta.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 187, doi. 10.1111/j.1399-0004.1986.tb01251.x

By:

Brude, Dr. phil. nat. Elke

Publication type:

Article

A de novo translocation in a family with a balanced reciprocal chromosomal translocation.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 143, doi. 10.1111/j.1399-0004.1986.tb01238.x

By:

Short, M. Priscilla;
Gilbert, Fred;
Hirschhorn, Kurt

Publication type:

Article

Names in genetics: ban on partial trisomy, tetrasomy and monosomy.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 183, doi. 10.1111/j.1399-0004.1986.tb01248.x

By:

Hecht, Frederick

Publication type:

Article

Isolated congenital bowed long bones.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 165, doi. 10.1111/j.1399-0004.1986.tb01243.x

By:

Kapur, Saroj;
Vloten, Ada Van

Publication type:

Article

A family with congenital suprabulbar paresis (Worster-Drought syndrome).

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 147, doi. 10.1111/j.1399-0004.1986.tb01239.x

By:

Patton, M. A.;
Baraitser, M.;
Brett, E. M.

Publication type:

Article

ERRATUM.

Published in:: Clinical Genetics, 1986, v. 29, n. 2, p. 190, doi. 10.1111/j.1399-0004.1986.tb01253.x
Publication type:: Article

Sanfilippo disease in Greece.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 129, doi. 10.1111/j.1399-0004.1986.tb01235.x

By:

Beratis, Nicholas G.;
Sklower, Susan L.;
Wilbur, Lorraine;
Matalon, Reuben

Publication type:

Article

Population cytogenetics of autosomal fragile sites.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 96, doi. 10.1111/j.1399-0004.1986.tb01229.x

By:

Petit, P.;
Fryns, J. P.;
Berghe, H. van den;
Hecht, F.

Publication type:

Article

Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 160, doi. 10.1111/j.1399-0004.1986.tb01242.x

By:

Bleeker-Wagemakers, E. M.;
Oorthuys, J. W. E.;
Wanders, R. J. A.;
Schutgens, R. B. H.

Publication type:

Article

An infant with thanatophoric dwarfism surviving 169 days.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 157, doi. 10.1111/j.1399-0004.1986.tb01241.x

By:

Stensvold, K.;
Ek, J.;
Hovland, A. R.

Publication type:

Article

Pierre Robin anomaly with an accessory metacarpal of the index fingers.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 168, doi. 10.1111/j.1399-0004.1986.tb01244.x

By:

Dignan, P. St. J.;
Martin, L. W.;
Zenni, E. J.

Publication type:

Article

Guidelines for the diagnosis of fragile X.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 95, doi. 10.1111/j.1399-0004.1986.tb01228.x

By:

Arce, Miguel A. De;
Hecht, Frederick;
Sutherland, Grant R.;
Webb, Graham C.

Publication type:

Article

Cytogenetic analysis in 100 spontaneous abortions in North-East Scotland.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 101, doi. 10.1111/j.1399-0004.1986.tb01230.x

By:

Procter, Susan E.;
Watt, Jessie L.;
Gray, Elizabeth S.

Publication type:

Article

Pericentric inversion 16 in man - a second case.

Published in:

Clinical Genetics, 1986, v. 29, n. 2, p. 181, doi. 10.1111/j.1399-0004.1986.tb01247.x

By:

Miller, Konstantin

Publication type:

Article