Antonarakis SE - Search Results

1

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

Makrythanasis P, Temtamy S, Aglan MS, Otaify GA, Hamamy H, Antonarakis SE. Makrythanasis P, et al. Among authors: antonarakis se. Hum Mutat. 2014 Aug;35(8):959-63. doi: 10.1002/humu.22597. Epub 2014 Jun 28. Hum Mutat. 2014. PMID: 24864036

2

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M. Menzel O, et al. Among authors: antonarakis se. Hum Mutat. 2004 Jan;23(1):77-84. doi: 10.1002/humu.10284. Hum Mutat. 2004. PMID: 14695535

3

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.

Wattenhofer M, Reymond A, Falciola V, Charollais A, Caille D, Borel C, Lyle R, Estivill X, Petersen MB, Meda P, Antonarakis SE. Wattenhofer M, et al. Among authors: antonarakis se. Hum Mutat. 2005 Jun;25(6):543-9. doi: 10.1002/humu.20172. Hum Mutat. 2005. PMID: 15880785

4

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL. Fokstuen S, et al. Among authors: antonarakis se. Hum Mutat. 2008 Jun;29(6):879-85. doi: 10.1002/humu.20749. Hum Mutat. 2008. PMID: 18409188

5

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.

Makrythanasis P, Kapranov P, Bartoloni L, Reymond A, Deutsch S, Guigó R, Denoeud F, Drenkow J, Rossier C, Ariani F, Capra V, Excoffier L, Renieri A, Gingeras TR, Antonarakis SE. Makrythanasis P, et al. Among authors: antonarakis se. Hum Mutat. 2009 Sep;30(9):E866-79. doi: 10.1002/humu.21073. Hum Mutat. 2009. PMID: 19562714 Free PMC article.

6

From sequence to functional understanding: the difficult road ahead.

Makrythanasis P, Antonarakis SE. Makrythanasis P, et al. Among authors: antonarakis se. Genome Med. 2011 Apr 6;3(4):21. doi: 10.1186/gm235. Genome Med. 2011. PMID: 21470392 Free PMC article.

7

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy S, Romeo G, Kate LP, Bennett RL, Shaw A, Megarbane A, van Duijn C, Bathija H, Fokstuen S, Engel E, Zlotogora J, Dermitzakis E, Bottani A, Dahoun S, Morris MA, Arsenault S, Aglan MS, Ajaz M, Alkalamchi A, Alnaqeb D, Alwasiyah MK, Anwer N, Awwad R, Bonnefin M, Corry P, Gwanmesia L, Karbani GA, Mostafavi M, Pippucci T, Ranza-Boscardin E, Reversade B, Sharif SM, Teeuw ME, Bittles AH. Hamamy H, et al. Among authors: antonarakis se. Genet Med. 2011 Sep;13(9):841-7. doi: 10.1097/GIM.0b013e318217477f. Genet Med. 2011. PMID: 21555946 Free article.

8

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

Makrythanasis P, Gimelli S, Béna F, Dahoun S, Morris MA, Antonarakis SE, Bottani A. Makrythanasis P, et al. Among authors: antonarakis se. Eur J Med Genet. 2012 Jan;55(1):63-6. doi: 10.1016/j.ejmg.2011.11.001. Epub 2011 Nov 10. Eur J Med Genet. 2012. PMID: 22080113

9

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.

Radhakrishna U, Ratnamala U, Deutsch S, Bartoloni L, Kuracha MR, Singh R, Banwait J, Bastola DK, Johar K, Nath SK, Antonarakis SE. Radhakrishna U, et al. Among authors: antonarakis se. Eur J Hum Genet. 2012 Oct;20(10):1032-6. doi: 10.1038/ejhg.2012.60. Epub 2012 Apr 11. Eur J Hum Genet. 2012. PMID: 22490987 Free PMC article.

10

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.

Borel C, Migliavacca E, Letourneau A, Gagnebin M, Béna F, Sailani MR, Dermitzakis ET, Sharp AJ, Antonarakis SE. Borel C, et al. Among authors: antonarakis se. Hum Mutat. 2012 Aug;33(8):1302-9. doi: 10.1002/humu.22115. Epub 2012 Jun 15. Hum Mutat. 2012. PMID: 22573514

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

661 results

Search Page

Filters