Volume 44; Issue 4

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Clinical Genetics
Volume 44; Issue 4

Clinical Genetics

Volume 44; Issue 4

1

Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence

Masatake Yamauchi, Shin Nagata, Naohiko Seki, Yoshiro Toyama, Naoki Harada, Norio Niikawa, Ichiro Masuno, Tadashi Kajii, Tada-aki Hori

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 432 KB

english, 1993

2

A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3

Steve Jeffery, Anand K. Saggar-Malik, Steve Morgan, Graham A. MacGregor

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 412 KB

english, 1993

3

Apolipoprotein B gene DNA polymorphisms are associated with macro- and microangiopathy in non-insulin-dependent diabetes mellitus

Olavi Ukkola, Markku J. Savolainen, Pasi I. Salmela, Kai von Dickhoff, Y. Antero Kesäniemi

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 827 KB

english, 1993

4

Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16

Noralane M. Lindor, Syeed M. Jalal, Stephen N. Thibodeau, Denise Bonde, Kristen L. Sauser, Pamela S. Karnes

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 621 KB

english, 1993

5

Oral-facial-digital syndrome with fibular aplasia: a new variant

L. E. Figuera, F. Rivas, J. M. Cantú

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 398 KB

english, 1993

6

Alternate, adjacent 2 and 3:1 meiotic segregation products from a balanced t(13;18) (q12;q11) carrier

C. Cotton, M. Cummins, A. Smith

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 218 KB

english, 1993

7

No effect of TaqI polymorphism at the human renal kallikrein (KLK1) locus on normal blood pressure level or variability

K. E. Berge, K. Berg

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 642 KB

english, 1993

8

The Myhre syndrome: report of two cases

D. Garcia-Cruz, L. E. Figuera, A. Feria-Velazco, J. Sánchez-Corona, M. O. Garcia-Cruz, R. M. Ramirez-Duenãs, A. Hernandez-Córdova, M. X. Ruiz, W. E. Bitar-Alatorre, M. L. Ramirez-Dueñas, J. M. Cantú

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 760 KB

english, 1993

9

Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly

Petter Strømme, Eilif Dahl, Tor Flage, Helge Stene-Johansen

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 348 KB

english, 1993

10

Dacryocystitis associated with osteopoikilosis

I. Günal, S. Seber, N. Basaran, S. Artan, K. Günal, E. Gokturk

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 384 KB

english, 1993

11

Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia Norwegian subjects

Olaug K. Rødningen, Trond P. Leren, Oddveig Røsby, Serena Tonstad, Leiv Ose, Kare Berg

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 699 KB

english, 1993

12

Consanguineous marriages among parents of patients with Down syndrome

A. I. Cereijo, M. L. Martínaz-frías

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 142 KB

english, 1993

13

Williams syndrome and subaortic stenosis

Nazmi Narin, Ruhi Özyürek, A. Rahmi Bakiler, Aytül Parlar, Müfit Arcasoy, Ferda Köprübaşsi

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 69 KB

english, 1993

14

Reply to the letter from Woods and Smith

R. H. Nyberg, A. K. Haapala, K. O. J. Simola

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 87 KB

english, 1993

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