Baxova A - Search Results

1

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.

Tesarova M, Baxova A, Hansikova H, Lambert L, Vondrackova A, Leiska A, Zeman J. Tesarova M, et al. Among authors: baxova a. Clin Dysmorphol. 2022 Jul 1;31(3):145-148. doi: 10.1097/MCD.0000000000000416. Epub 2022 Feb 14. Clin Dysmorphol. 2022. PMID: 35165208 No abstract available.

2

Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.

Čechová A, Baxová A, Zeman J, Lambert L, Honzík T, Leiská A, Čunát V, Tesařová M. Čechová A, et al. Among authors: baxova a. Prague Med Rep. 2019;120(4):124-130. doi: 10.14712/23362936.2019.17. Prague Med Rep. 2019. PMID: 31935347 Free article.

3

The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.

Jirečková J, Magner M, Lambert L, Baxová A, Leiská A, Kopečková L, Fajkusová L, Zeman J. Jirečková J, et al. Among authors: baxova a. Prague Med Rep. 2018;119(4):156-164. doi: 10.14712/23362936.2019.3. Prague Med Rep. 2018. PMID: 30779700 Free article.

4

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.

El-Lababidi N, Zikánová M, Baxová A, Nosková L, Leiská A, Lambert L, Honzík T, Zeman J. El-Lababidi N, et al. Among authors: baxova a. Prague Med Rep. 2020;121(3):153-162. doi: 10.14712/23362936.2020.14. Prague Med Rep. 2020. PMID: 33030144 Free article.

5

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.

Sípek A Jr, Grodecká L, Baxová A, Cibulková P, Dvořáková M, Mazurová S, Magner M, Zeman J, Honzík T, Freiberger T. Sípek A Jr, et al. Among authors: baxova a. Am J Med Genet A. 2014 Jun;164A(6):1559-64. doi: 10.1002/ajmg.a.36480. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668922

6

GAPO syndrome (Radiographic clues to early diagnosis).

Baxova A, Kozlowski K, Obersztyn E, Zeman J. Baxova A, et al. Radiol Med. 1997 Mar;93(3):289-91. Radiol Med. 1997. PMID: 9180938 No abstract available.

7

Foramina parietalia permagna: report of nine cases in one family.

Kutilek S, Baxova A, Bayer M, Leiska A, Kozlowski K. Kutilek S, et al. Among authors: baxova a. J Paediatr Child Health. 1997 Apr;33(2):168-70. doi: 10.1111/j.1440-1754.1997.tb01023.x. J Paediatr Child Health. 1997. PMID: 9145364

8

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Zahorakova D, Rosipal R, Hadac J, Zumrova A, Bzduch V, Misovicova N, Baxova A, Zeman J, Martasek P. Zahorakova D, et al. Among authors: baxova a. J Hum Genet. 2007;52(4):342-348. doi: 10.1007/s10038-007-0121-x. Epub 2007 Feb 15. J Hum Genet. 2007. PMID: 17387578

9

X-linked dominant chondrodysplasia punctata (CDPX2): multisystemic impact of the defect in cholesterol biosynthesis.

Martanová H, Krepelová A, Baxová A, Hansíková H, Cánský Z, Kvapil M, Gregor V, Magner M, Zeman J. Martanová H, et al. Among authors: baxova a. Prague Med Rep. 2007;108(3):263-9. Prague Med Rep. 2007. PMID: 18399064

10

Opsismodysplasia: a case report.

Zeman J, Baxova A, Houstkova H, Kozlowski K. Zeman J, et al. Among authors: baxova a. Australas Radiol. 1997 Feb;41(1):35-7. doi: 10.1111/j.1440-1673.1997.tb00465.x. Australas Radiol. 1997. PMID: 9125065

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