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Issue Date
Title
Author(s)
1997
Mutation detection in FGFR2 craniosynostosis syndromes
Hollway, G.
;
Suthers, G.
;
Haan, E.
;
Thompson, E.
;
David, D.
;
Gecz, J.
;
Mulley, J.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
2008
Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Molinari, F.
;
Foulquier, F.
;
Tarpey, P.
;
Morelle, W.
;
Boissel, S.
;
Teague, J.
;
Edkins, S.
;
Futreal, P.
;
Stratton, M.
;
Turner, G.
;
Matthijs, G.
;
Gecz, J.
;
Munnich, A.
;
Colleaux, L.
2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
Lynch, S.
;
Nguyen, L.
;
Ng, L.
;
Waldron, M.
;
McDonald, D.
;
Gecz, J.
2004
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
Partington, M.
;
Turner, G.
;
Boyle, J.
;
Gecz, J.
2004
1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
Lower, K.
;
Solders, G.
;
Bondeson, M.
;
Nelson, J.
;
Brun, A.
;
Crawford, J.
;
Malm, G.
;
Borjeson, M.
;
Turner, G.
;
Partington, M.
;
Gecz, J.
2004
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
Tao, J.
;
Van Esch, H.
;
Hagedorn-Greiwe, M.
;
Hoffmann, K.
;
Moser, B.
;
Raynaud, M.
;
Sperner, J.
;
Fryns, J.
;
Schwinger, E.
;
Gecz, J.
;
Ropers, H.
;
Kalscheuer, V.
2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
Van Esch, H.
;
Bauters, M.
;
Ignatius, J.
;
Jansen, M.
;
Raynaud, M.
;
Hollanders, K.
;
Lutenberg, D.
;
Bienvenu, T.
;
Jensen, L.
;
Gecz, J.
;
Moraine, C.
;
Marynen, P.
;
Fryns, J.
;
Froyen, G.
2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Freude, K.
;
Hoffmann, K.
;
Jensen, L.
;
Delatycki, M.
;
des Portes, V.
;
Moser, B.
;
Hamel, B.
;
van Bokhoven, H.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
Gecz, J.
;
Lenzner, S.
;
Kalscheuer, V.
;
Ropers, H.
2003
Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not
Gecz, J.
;
Shaw, M.
;
Bellon, J.
;
de Barros Lopes, M.
Discover
Author
12
Haan, E.
12
Ropers, H.
11
Kalscheuer, V.
10
Fryns, J.
9
Chelly, J.
9
et al.
9
Moraine, C.
9
Shoubridge, C.
8
Shaw, M.
8
Turner, G.
.
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Subject
53
Male
48
Mutation
43
Female
29
Intellectual Disability
29
Pedigree
26
Animals
26
Molecular Sequence Data
22
Chromosomes, Human, X
21
Transcription Factors
20
Mental Retardation, X-Linked
.
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Date issued
1
2020 - 2021
33
2010 - 2019
51
2000 - 2009
3
1997 - 1999