Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene

2001 ◽  
Vol 109 (4) ◽  
pp. 421-428 ◽  
Author(s):  
Consolato Sergi ◽  
Roland Penzel ◽  
Johannes Uhl ◽  
Saida Zoubaa ◽  
Heike Dietrich ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Nonsense Mutation ◽  
Turkish Family ◽  
Fetal Pathology

Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14

1988 ◽  
Vol 8 (9) ◽  
pp. 677-682 ◽  
Author(s):  
Sau W. Cheung ◽  
Paula L. Kolacki ◽  
Michael S. Watson ◽  
James P. Crane
Keyword(s):  
Prenatal Diagnosis ◽  
Cytogenetic Analysis ◽  
Fetal Pathology ◽  
Mosaic Trisomy

scholarly journals Prenatal Diagnosis and Fetal Pathology of Tay-Sachs Disease

1976 ◽  
Vol 118 (4) ◽  
pp. 323-330
Author(s):  
SINOBU HIGAMI ◽  
KOJI NISHIZAWA ◽  
KIYOSHI OMURA ◽  
KOICHI SUGIMOTO ◽  
GEN ISSHIKI ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Tay Sachs Disease ◽  
Fetal Pathology

Prenatal diagnosis and fetal pathology of aspartylglucosaminuria

1984 ◽  
Vol 19 (2) ◽  
pp. 359-367 ◽  
Author(s):  
Pertti Aula ◽  
Juhani Rapola ◽  
Harriet von Koskull ◽  
Pirkko Ämmälä
Keyword(s):  
Prenatal Diagnosis ◽  
Fetal Pathology

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder

Gene ◽  
2013 ◽  
Vol 512 (2) ◽  
pp. 189-193 ◽  
Author(s):  
Ender Karaca ◽  
Elif Karakoc-Aydiner ◽  
Omer Faruk Bayrak ◽  
Sevgi Keles ◽  
Serhat Sevli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Novel Mutation ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Immunodeficiency Disorder ◽  
Turkish Family

Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism

1988 ◽  
Vol 31 (4) ◽  
pp. 915-920 ◽  
Author(s):  
Mark I. Evans ◽  
Ivan E. Zador ◽  
Faisal Qureshi ◽  
Harish Budev ◽  
Mary Helen Quigg ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fetal Pathology

Trends in prenatal diagnosis

1994 ◽  
Vol 6 (2) ◽  
pp. 113-118
Author(s):  
Paul P Fogarty ◽  
James C Dornan
Keyword(s):  
Prenatal Diagnosis ◽  
New Technologies ◽  
Human Genetics ◽  
Screening Tests ◽  
Fetal Therapy ◽  
Fetal Medicine ◽  
Future Developments ◽  
All Diseases ◽  
Fetal Pathology ◽  
In Pregnancy

Prenatal diagnosis is one of the most rapidly expanding areas in medicine and now forms a significant part of Fetal Medicine subspecialization. With the introduction of new technologies in the areas of human genetics, fetal therapy and fetal pathology, those interested must work hard to keep abreast of the latest advances. General obstetricians and those involved in pregnancy counselling must now be aware of all diseases which can be transmitted and for which prenatal diagnosis and screening tests are available and appropriate. There is a plethora of reviews of current techniques and procedures and it would be repetitive for us to produce another such paper. Rather, this article aims to highlight those areas which by definition are changing and where we see future developments occurring. Those readers seeking in depth reviews of present methods are referred to standard texts.

A novel nonsense mutation of the CYLD gene in a Turkish family with multiple familial trichoepithelioma

2019 ◽  
Vol 45 (4) ◽  
pp. 508-511
Author(s):  
S. Sarikaya Solak ◽  
S. Yalcıntepe ◽  
C. Atahan ◽  
N. Nagy ◽  
N. Can
Keyword(s):  
Nonsense Mutation ◽  
Turkish Family ◽  
Cyld Gene

Prenatal diagnosis, fetal pathology and cytogenetic analysis of A 46,XX/47,XX, + 15 mosaic

1983 ◽  
Vol 3 (1) ◽  
pp. 75-79 ◽  
Author(s):  
G. Gimelli ◽  
Cristina Cuoco ◽  
E. Porro ◽  
Helga Rehder ◽  
M. Fraccaro
Keyword(s):  
Prenatal Diagnosis ◽  
Cytogenetic Analysis ◽  
Fetal Pathology
Sign in / Sign up

Export Citation Format

Share Document