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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1976 1
1978 1
1981 1
1983 2
1984 2
1985 1
1986 1
1987 3
1989 1
1990 1
1992 1
1994 1
1995 6
1998 1
1999 2
2001 1
2002 2
2003 3
2004 2
2005 2
2024 0

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Publication date

PubMed (OMIM) for id: 924974

36 results

Results by year

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Page 1
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. van Reeuwijk J, et al. J Med Genet. 2005 Dec;42(12):907-12. doi: 10.1136/jmg.2005.031963. Epub 2005 May 13. J Med Genet. 2005. PMID: 15894594 Free PMC article.
A new mutation of the fukutin gene in a non-Japanese patient.
Silan F, Yoshioka M, Kobayashi K, Simsek E, Tunc M, Alper M, Cam M, Guven A, Fukuda Y, Kinoshita M, Kocabay K, Toda T. Silan F, et al. Ann Neurol. 2003 Mar;53(3):392-6. doi: 10.1002/ana.10491. Ann Neurol. 2003. PMID: 12601708
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Beltrán-Valero de Bernabé D, et al. Am J Hum Genet. 2002 Nov;71(5):1033-43. doi: 10.1086/342975. Epub 2002 Oct 4. Am J Hum Genet. 2002. PMID: 12369018 Free PMC article.
36 results