Volume 50; Issue 4

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Clinical Genetics
Volume 50; Issue 4

Clinical Genetics

Volume 50; Issue 4

1

DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications

R.V. Smart, B. Yu, H. Le, J. A. French, D. R. Richmond, R. W. Jeremy, C. Semsarian, L. Cheung, D. A. Ross, R. J. Trent

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 589 KB

english, 1996

2

Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21

B. Häne, R. J. Schroer, J. F. Arena, H. A. Lubs, C. E. Schwartz, R. E. Stevenson

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.39 MB

english, 1996

3

Association of genetic variation at the β-fibrinogen gene locus and plasma fibrinogen evels; interaction between allele frequency of the G/A-455polymorphism, age and smoking

A. E. Thomas, F. R. Green, S. E. Humphries

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 674 KB

english, 1996

4

DNA polymorphisms in linkage disequilibrium at the 3‘ end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease

A. M. Dupuy-Gorce, E. Desmarais, S. Vigneron, C. Buresi, V. Nicaud, A. Evans, G. Luc, D. Arveiler, P. Marqués-Vidal, F. Cambien, L. Tiret, A. Crastes de Paulet, G. Roizés

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.25 MB

english, 1996

5

Reduction of CAG expansions in cerebellar cortex and spinal cord of DRPLA

M. Aoki, K. Abe, M. Tobita, T. Kameya, M. Watanabe, Y. Itoyama

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 259 KB

english, 1996

6

Rapid detection of a mutation hot-spot in the human androgen receptor

Helena Malmgren, Jan Gustavsson, Torsten Tuvemo, Niklas Dahl

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 334 KB

english, 1996

7

Genetic analysis of the glucose-6-phosphatase mutation of type la glycogen storage disease in a Chinese family

Wen-Jane Lee, Hsien-Ming Lee, Ching-Shiang Chi, San-Ging Shu, Lih-Yaun Lin, Wen-Han Lin

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 689 KB

english, 1996

8

Distinct facial appearance with nasal hypoplasia, constipation, severe mental retardation and hypotonia in two unrelated young males

Jean-Pierre Fryns, Chantal De Troch, Christine Van Mol, Luc Vandenbossche

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 684 KB

english, 1996

9

The Floating-Harbor syndrome: two affected siblings in a family

J. P. Fryns, A. Kleczkowska, J. Timmermans, H. van den Berghe

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 442 KB

english, 1996

10

Partial monosomy 10q and partial trisomy 9q with anal atresia due to maternal translocation: t(9;10)(q32;q26)

Toshinori Tsukuda, Ikuo Nagata, Hiroshi Sawada, Jun Murakami, Keiichi Hanaki, Hirofumi Urashima, Tomoharu Kaneda, Norio Shimizu, Nobuaki Kaibara, Nagao Kodama, Takehiko Ohzeki, Kazuo Shiraki

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 282 KB

english, 1996

11

Keipert syndrome in two brothers from Turkey

Sevim Balci, Safak Dagli

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.63 MB

english, 1996

12

Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome?

M. Spranger, S. Spranger, J. Ziegan, J. Lössner, H.-M. Meinck

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 680 KB

english, 1996

13

Down syndrome associated with a retroperitoneal teratoma and Morgagni hernia

B. S. Quah, B. S. Menon

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.08 MB

english, 1996

14

Siblings with congenital renal tubular acidosis and nerve deafness

C. Stoll, A. Gentine, J. Geisert

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 356 KB

english, 1996

15

COFS syndrome with familial 1;16 translocation

S. A. Temtamy, N. A. Meguid, A. Mahmoud, H. H. Afifi, A. Gerzawy, M. S. Zaki

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 586 KB

english, 1996

16

Life-threatening cardiac involvement throughout life in a case of Costello syndrome

Toshiyuki Fukao, Shinji Sakai, Nobuyuki Shimozawa, Takashi Kuwahara, Masatsugu Kano, Emiko Goto, Yoshihiro Nakashima, Mayumi Katagiri-Kawade, Hiroshi Ichihashi, Mitsuo Masuno, Tadao Orii, Naomi Kondo

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 589 KB

english, 1996

17

A case report of 46, XX, del (21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome

Figen Celep, Ahmet Karagüzel, F. Müjgan Aynaci, Erol Erduran

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 288 KB

english, 1996

18

Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?

Albert David, Marie-Françoise Nombalais, Jean-Marie Rival, Alain Verloes

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.34 MB

english, 1996

19

Desbuquois syndrome in an Arab Bedouin family

L I. Al-Gazeli, S. A. A. Aziz, D. Bakalinova

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.35 MB

english, 1996

20

Further evidence for a syndrome of “apple peel” intestinal atresia, ocular anomalies and microcephaly

Jennie Slee, Jack Goldblatt

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 625 KB

english, 1996

21

Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes

Toshiyuki Fukao, Akihiko Kodama, Noriyuki Aoyanagi, Ryu-ichi Tsukino, Shigeru Uemura, Xiang-Qian Song, Hiroh Watanebe, Tomiko Kuhara, I. Matsumoto, Tadao Orii, Naomi Kondo

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 322 KB

english, 1996

22

FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure

P. Riva, I. Magnani, A. M. Fuhrmann Conti, D. Gelli, C. Sala, D. Toniolo, L. Larizza

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 390 KB

english, 1996

23

Familial translocation (X;3)(p22.3;p23): chromosomal in situ suppression (CISS) hybridization and inactivation pattern study

Jaime Garcia-Heras

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 147 KB

english, 1996

24

Clinical features in the Wiedemann-Beckwith syndrome

Roberto Martinezy Martinez

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 156 KB

english, 1996

25

Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary

G. Evers-Kiebooms, J.P. Fryns, K. Demyttenaere, M. Decruyenaere, A. Boogaerts, T. Cloostermans, J. J. Cassiman, R. Dom, H. van den Berghe

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 180 KB

english, 1996

26

Antley-Bixler syndrome

T. Mattina, M. Pierluigi, C. Perfumo, D. Mazzone, S. Scardilli, F. Mollica

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 88 KB

english, 1996

27

Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome

M. Refugio Rivera-Vega, N. Leyva Juarez, Sergio A. Cuevas-Covarrubias, Susana H. Kofman-Alfaro

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 437 KB

english, 1996