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Volume 50; Issue 4
Main
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 1996
24
Clinical features in the Wiedemann-Beckwith syndrome
Roberto Martinezy Martinez
Journal:
Clinical Genetics
Year:
1996
Language:
english
File:
PDF, 156 KB
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 1996
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