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Year Number of Results
1970 1
1971 1
1972 1
1974 1
1975 1
1979 1
1980 3
1982 3
1983 2
1986 1
1988 4
1989 1
1991 4
1992 2
1994 2
1996 2
2000 2
2002 2
2003 2
2004 5
2005 3
2006 6
2007 9
2008 5
2009 3
2010 4
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2015 2
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2017 1
2024 0

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69 results

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Page 1
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Among authors: turner g. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. ...The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual …
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. ...The newly ide …
X-linked mental retardation.
Turner G, Opitz JM. Turner G, et al. Am J Med Genet. 1980;7(4):407-15. doi: 10.1002/ajmg.1320070403. Am J Med Genet. 1980. PMID: 7011031 Review. No abstract available.
Non-specific X linked mental retardation.
Kerr B, Turner G, Mulley J, Gedeon A, Partington M. Kerr B, et al. Among authors: turner g. J Med Genet. 1991 Jun;28(6):378-82. doi: 10.1136/jmg.28.6.378. J Med Genet. 1991. PMID: 1870094 Free PMC article. Review.
Non-specific X linked mental retardation (MRX) is mental retardation in persons of normal physical appearance who have no recognisable features apart from a characteristic pedigree. ...
Non-specific X linked mental retardation (MRX) is mental retardation in persons of normal physical appearance who have no reco …
X-linked mental retardation.
Turner G, Turner B. Turner G, et al. J Med Genet. 1974 Jun;11(2):109-13. doi: 10.1136/jmg.11.2.109. J Med Genet. 1974. PMID: 4841078 Free PMC article.
It is suggested that the excess of affected brothers represents X-linked forms of mental retardation. An estimate of prevalence rate was calculated from the brother pair excess and was found to be 0.74/1000 males. The calculated incidence of X-linked f …
It is suggested that the excess of affected brothers represents X-linked forms of mental retardation. An estimate of prevalenc …
Marker (X)-linked mental retardation.
Turner G, Jacobs P. Turner G, et al. Adv Hum Genet. 1983;13:83-112. doi: 10.1007/978-1-4615-8342-4_2. Adv Hum Genet. 1983. PMID: 6362362 Review. No abstract available.
Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).
Turner G, Brookwell R, Daniel A, Selikowitz M, Zilibowitz M. Turner G, et al. N Engl J Med. 1980 Sep 18;303(12):662-4. doi: 10.1056/NEJM198009183031202. N Engl J Med. 1980. PMID: 6931286
Males affected by one form of X-linked retardation possess the X-chromosomal marker fra(X)(q27) and are physically normal except for macro-orchidism. ...Pedigree and chromosomal analysis identified a further 18 heterozygotes; six were regarded as intellectually or e …
Males affected by one form of X-linked retardation possess the X-chromosomal marker fra(X)(q27) and are physically normal exce …
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S, Futreal PA, Stratton MR, Turner G, Matthijs G, Gecz J, Munnich A, Colleaux L. Molinari F, et al. Among authors: turner g. Am J Hum Genet. 2008 May;82(5):1150-7. doi: 10.1016/j.ajhg.2008.03.021. Epub 2008 May 1. Am J Hum Genet. 2008. PMID: 18455129 Free PMC article.
Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified, only four genes responsible for autosomal-recessive nonsyndromic MR (AR-NSMR) have been descri …
Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked …
Preventive screening for the fragile X syndrome.
Turner G, Robinson H, Laing S, Purvis-Smith S. Turner G, et al. N Engl J Med. 1986 Sep 4;315(10):607-9. doi: 10.1056/NEJM198609043151002. N Engl J Med. 1986. PMID: 3736599
In an Australian population of 1.2 million, we screened 1977 intellectually handicapped persons, who were identified through the public schools and sheltered workshops, for the X-linked semidominant fragile X syndrome. We excluded 527 because they had another known …
In an Australian population of 1.2 million, we screened 1977 intellectually handicapped persons, who were identified through the public scho …
X-linked mental retardation.
Turner G. Turner G. Psychol Med. 1982 Aug;12(3):471-3. doi: 10.1017/s0033291700055574. Psychol Med. 1982. PMID: 6957904 No abstract available.
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL. Whibley AC, et al. Among authors: turner g. Am J Hum Genet. 2010 Aug 13;87(2):173-88. doi: 10.1016/j.ajhg.2010.06.017. Epub 2010 Jul 22. Am J Hum Genet. 2010. PMID: 20655035 Free PMC article.
Copy number variants and indels in 251 families with evidence of X-linked intellectual disability (XLID) were investigated by array comparative genomic hybridization on a high-density oligonucleotide X chromosome array platform. ...By effectively bridg …
Copy number variants and indels in 251 families with evidence of X-linked intellectual disability (XLID) were in …
69 results