02.06.2013 Views

3+ 4/2002 - Společnost pro pojivové tkáně

3+ 4/2002 - Společnost pro pojivové tkáně

3+ 4/2002 - Společnost pro pojivové tkáně

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

Skupina 16<br />

– Fujimoto M., Kantaputra P. N., Ikegawa S. et al.<br />

The gene for mesomelic dysplasia Kantaputra type is<br />

mapped to chromosome 2q24–q32. J. Hum. Genet.<br />

43, 1998, s. 32–36.<br />

– Savarirayan R., Cormier-Daire V., Curry C. J. et al.<br />

New mesomelic dysplasia with absent fibulae and<br />

triangular tibiae. Amer. J. Med. Genet. 94, 2000,<br />

s. 59–63.<br />

– Robertson S. P., Shears D. J., Oei P. et al, Homozygous<br />

deletion of SHOX in a mentally retarded male<br />

with Langer mesomelic dysplasia. J. Med. Genet. 37,<br />

200, s. 959–964.<br />

Skupina 17<br />

– Lim-Dunham J. E., Poznanski A. K., Tachdjidian<br />

M. O. Christian brachydactyly in a father and two<br />

daughters. Skeletal Radiol. 24, 1995, s. 623–625.<br />

Skupina 26<br />

– Frattini A.,Orchard P. J.,Sobacchi C.,Gilliani S. et<br />

al. Defects in TCIRGI subunit of the vascular <strong>pro</strong>ton<br />

pump are responsible for a subset of human autosomal<br />

recessive osteopetrosis. Nat. Genet. 25, 2000, s.<br />

343–346.<br />

– Sobacchi, C.,Orchard,P., Porras, O. et al.: The<br />

mutational spectrum of human malignant autosomal<br />

recessive osteopetrosis. Human. Genet. 10, 2001,<br />

s. 1767–1773.<br />

– Rees H., Ang L. C., Casey R., George D. H. The<br />

association of infantile neuroaxonal dystrophy and<br />

osteopetrosis: a rare autosomal recessive disorder.<br />

Pediatr Neurosurg. 22, 1995, s.321–327.<br />

– Hu P. Y., Ciccolella J., Strisciuglio P., Sly W. S.<br />

Seven novel mutation in mutations in carbonic acid<br />

anbydrase II deficiency syndrome identified by SSCP<br />

and direct sequencing analysis. Hum Mutat 9, 1997,<br />

s. 383–387.<br />

– Benichou O., Gram J., Bolleslev J. et al. Mapping<br />

of autosomal dominant osteopetrosis type II (Albers-<br />

Schonberg disease) to chromosome 16p13.3. Amer.<br />

J. Hum. Genet. 69, 2001, s. 647–654.<br />

– White K. E., Koller D. L., Takacs I. et al. Locus<br />

heterogeneity of autosomal dominant osteopetrosis<br />

(ADO). J. Clin. Endocrinol. Metab. 84, 1999,<br />

s. 1047–1051.<br />

– Doffinger R., Smahi A., Bessia C. et al. X-linked<br />

anhidrotic ecto-dermal dysplasia with immunodeficiency<br />

is caused by impaired NF-kappaB signaling.<br />

Nat. Genet. 27, 2001, s. 277–285.<br />

– John E., Kozlowski K., Masel J. et al. Dysosteosclerosis.<br />

Australas. Radiol. 40, 1996, s. 345–347.<br />

– Sprecher E., Chavanas, S., Di Giovanna, J. J. et al.<br />

The speetrum of pathogenic mutations in SPINK5 in<br />

19. families wiith Netherton syndrome: implications<br />

for mutation (detection and first case of prenatal<br />

diagnosis. Invest. Dermatol. 117, 2001, s.179–187.<br />

– Motyčkova G.,Weilbaecher K. N., Horstmann M.<br />

et al. Linking osteopetrosis and pycnodysostosis:regulation<br />

of cathepsin K expression by the microphthalmia<br />

transcription factor family. Proc. Natl. Acad.<br />

Sci. USA 98, 2001, s. 5798–5803.<br />

– Horovitz D. D., Barbosa Neto J. G., Boy Ret al.<br />

Autosomal dominant osteosclerosis type Stanescu:<br />

the third family. Amer. J. Med.Genet. 57, 1995,<br />

s. 605–609.<br />

– Bueno A., Ramos F. J., Boeno Oet al. Severe malformations<br />

in males from families with osteopathia<br />

striata with cranial sclerosis. Clin.Genet. 54, 1998,<br />

s. 400–405.<br />

– Happle R. Buschke-Ollendorff syndrome: early,<br />

unilateral and <strong>pro</strong>nounced involvement may be<br />

explained as a type 2 segmental manifestation. Eur.<br />

Dermatol. 11, 2001, s. 505.<br />

Skupina 27<br />

– Kinoshita T.,Saito T.,Tomita H. et al. Domain-specific<br />

mutations in TGFB 1 result in Camurati Engelmann<br />

disease NatGenet 26, 2000, s. 19–20.<br />

– Guadami M., Makita Y.,Yoshida K. et al. Genetic<br />

mapping of the Camurati-Engelmann disease locus<br />

to chromosome 19q131–q133.Amer J Human Genet<br />

66, 2000, s. 143–147.<br />

– Brunkov M. E., Gardner J. C., Van Ness J. et al.<br />

Bone dysplasia sclerosteosis results from loss of the<br />

SOST gene <strong>pro</strong>duct, a novel Cystine knot-containing<br />

<strong>pro</strong>tein. Amer J Hum Genet 68, 2001, s. 577–589.<br />

POHYBOVÉ ÚSTROJÍ, ročník 9, <strong>2002</strong>, č. <strong>3+</strong>4 47

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!