Volume 53; Issue 2

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Clinical Genetics
Volume 53; Issue 2

Clinical Genetics

Volume 53; Issue 2

1

Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates

Ethylin Wang Jabs

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.85 MB

english, 1998

2

A new period in time for geneticists Positional cloning of the mouse circadian clock gene

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 656 KB

english, 1998

3

Who are our ancestors? Insights from mitochondrial mutations: molecular time machines over the millennia

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 797 KB

english, 1998

4

Multifactorial age-related macular degeneration allelic with autosomal recessive Stargardt macular dystrophy

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 371 KB

english, 1998

5

Diabetes and pancreatic agenesis

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 398 KB

english, 1998

6

Rapid determination of trisomy 18 parental origin using fluorescent PCR and small tandem repeat markers: case reports

Ian Findlay, Tamás Tóth, Paul Matthews, Tamás Marton, Philip Quirke, Zoltán Papp

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 348 KB

english, 1998

7

Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation

Kazuko Sukegawa, Tetuo Matsuzaki, Seiji Fukuda, Mitsuo Masuno, Toshiyuki Fukao, Mie Kokuryu, Shoko Iwata, Shunji Tomatsu, Tadao Orii, Naomi Kondo

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 943 KB

english, 1998

8

Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy

Mieko Yoshioka, Tohru Yorifuji, Izuru Mituyoshi

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.25 MB

english, 1998

9

Clinical, morphological and biochemical features in the familial articular hypermobility syndrome (FAHS): a family study

D. Garcia-Cruz, S. Cano-Colin, J. Sánchez-Corona, MP Gallegos, J. Chimal-Monroy, L. Díaz-de-León

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 2.78 MB

english, 1998

10

Maternal cell contamination of buccal smear samples in nursing neonates

Dusica Babovic-Vuksanovic, Virginia V Michels, Mark E Law, Noralane M Lindor, Syed M Jalal

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 4.60 MB

english, 1998

11

Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects

Frans A Hol, Nathalie MJ van der Put, Monique PA Geurds, Sandra G Heil, Frans JM Trijbels, Ben CJ Hamel, Edwin CM Mariman, Henk J Blom

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 605 KB

english, 1998

12

Vascular anastomoses leading to amelia and cutis aplasia in a dizygotic twin pregnancy

Mary C Phelan, Joseph S Geer, Will R Blackburn

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.13 MB

english, 1998

13

DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer

Tao Liu, Siobhan Wahlberg, Carlos Rubio, Eva Holmberg, Henrik Grönberg, Annika Lindblom

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 642 KB

english, 1998

14

Inherited microdeletion in Xp21.3–22.1 involved in non-specific mental retardation

Vincent des Portes, Alain Carrié, Pierre Billuare, Virginie Kieffer, Thierry Bienvenu, Marie Claude Vinet, Cherif Beldjord, Axel Kahn, Gérard Ponsot, Jamel Chelly, Marie Laure Moutard

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.18 MB

english, 1998

15

A case of insertional translocation involving chromosomes 2 and 4

Alexander Asamoah, Kailas N Nandi, Leonard Prouty, Theodore F Thurmon, Harold Chen

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.10 MB

english, 1998

16

No relation between apolipoprotein E alleles and obstructive sleep apnea

Seppo Saarelainen, Terho Lehtimäki, Eija Kallonen, Kirsi Laasonen, Tuija Poussa, Markku M Nieminen

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 165 KB

english, 1998

17

High frequency of IgE receptor FcεRIß variant (Leu181/Leu183) in Kuwaiti Arabs and its association with asthma

Z. Hijazi, MZ Haider, MR Khan, AA AI-Dowaisan

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 569 KB

english, 1998

18

Chromosomal instability in Marinesco-Sjögren Syndrome associated with acute myeloblastic leukemia

Seiji Fukuda, Yukiji Yamada, Koji Isogui, Tomonori Terada, Masako Iwata, Yukitoshi Takahashi, Naomi Kondo

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 167 KB

english, 1998