Volume 51; Issue 5

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Clinical Genetics
Volume 51; Issue 5

Clinical Genetics

Volume 51; Issue 5

1

MN blood group affects response of serum LDL cholesterol level to a low fat diet

Andrew J. Birley, Robert MacLennan, Mark Wahlqvist, Linda Gerns, Theresa Pangan, Nicholas G. Martin

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 463 KB

english, 1997

2

Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience

Çiǧjdem Altay, Mehmet Alikaşifoǧlu, Abdurrahman Kara, Ergül Tunçbilek, Namik Özbek, Trautte M. Schroeder-Kurth

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 1.27 MB

english, 1997

3

High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium

O. Descamps, J-C. Hondekijn, P. Van Acker, J-P. Deslypere, F. R. Heller

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 570 KB

english, 1997

4

Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient

Krystina Chrzanowska, Markus Stumm, Magdalena Bialecka, Kathrin Saar, Ewa Bernatowska-Matuszkiewicz, Jacek Michalkiewicz, Slawomir Barszcz, André Reis, Rolf-Dieter Wegner

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 412 KB

english, 1997

5

The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations

Thomas Rosenberg, Marianne Haim, Anne-Marie Hauch, Agnete Parving

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 685 KB

english, 1997

6

Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients

Atsushi Imamura, Yasuyuki Suzuki, Xiang-Qian Song, Toshiyuki Fukao, Atsushi Uchiyama, Nobuyuki Shimozawa, Keiju Kamijo, Takashi Hashimoto, Tadao Orii, Naomi Kondo

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 571 KB

english, 1997

7

Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?

S. Farah, M. A. Sabry, A. Khuraibet, S. Khaffagi, M. Rudwan, M. Hassan, N. Haseeb, S. Abulhassan, M. A. Abdel-Rasool, S. Elgamal, B. Qasrawi, W. Al-Busairi, T. I. Farag

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 1.27 MB

english, 1997

8

Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies

Robert P. Erickson, J. F. Stone, Leslie A. McNoe, Michael R. Eccles

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 1.14 MB

english, 1997

9

Pearson marrow pancreas syndrome: a molecular study and clinical management

Sara Seneca, Linda De Meirleir, Jean De Scbepper, Nadine Balduck, Kristin Jochmans, Inge Liebaers, Willy Lissens

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 574 KB

english, 1997

10

Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome?

Cengiz Yalçinkaya, Beyhan Tüysüz, Göksel Somay, Asim Cenani

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 933 KB

english, 1997

11

Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height

S. Spranger, S. Kirsch, A. Mertz, K. Schiebel, G. Tariverdian, G.A. Rappold

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 657 KB

english, 1997

12

Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome

Andréa Trevas Maciel-Guerra, Gil Guerra Jr, Sofia Helena V L Marini, Maria Tereza Matias Baptista, Antonia Paula Marques-de-Faria

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 467 KB

english, 1997

13

APO E Polymorphism in Spanish and Moroccan populations

N. Valveny, E. Esteban, M. Kandil, P. Moral

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 274 KB

english, 1997

14

Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?

R. A. Pfeiffer, Chr. Kändler, E. Sieber, A. Rauch, U. Trautmann

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 381 KB

english, 1997

15

Two new polymorphisms in the BRCA 1 gene

Josep Oriola, Esther Titos, Albert Leivas, Miguel-Angel Navarro, Francisca Rivera-Fillat

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 264 KB

english, 1997

16

Announcements

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 75 KB

english, 1997