G. Turner

发表

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2004, American journal of human genetics.

The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases

R. Stevenson, J. Graham, G. Turner, 2014, American journal of medical genetics. Part A.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

Marker (X)-linked mental retardation.

G. Turner, P. Jacobs, Gillian Turner, 1983, Advances in human genetics.

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Fikret Erdogan, Reinhard Ullmann, Wei Chen, 2007, Human mutation.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Tao Wang, Gavin Rumbaugh, Lilei Zhang, 2007, Proceedings of the National Academy of Sciences.

Genes for intelligence on the X chromosome.

M. Partington, G. Turner, 1991, Journal of medical genetics.

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.

A. Whibley, G. Turner, F. L. Raymond, 2010, Human molecular genetics.

Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).

G. Turner, M. Selikowitz, R. Brookwell, 1980, The New England journal of medicine.

Recurrence risks in undiagnosed mental retardation

M. Partington, G. Turner, 2000, Journal of medical genetics.

Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium

J. Gécz, B. D. de Vries, S. Lenzner, 2007, Human mutation.

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region

J. Gécz, P. Marynen, H. Ropers, 2007, Human Genetics.

X-linked mental retardation, macro-orchidism and the Xq27 fragile site

G. Turner, A. Daniel, 1980 .

Screening couples for cystic fibrosis carrier status: why are we waiting?

G. Turner, L. Christie, Elvira M Zilliacus, 2006, The Medical journal of Australia.

An assessment of screening strategies for fragile X syndrome in the UK.

M. Pembrey, M. Bobrow, G. Turner, 2001, Health technology assessment.

Longitudinal course of behavioral and emotional problems in fragile X syndrome.

B. Tonge, G. Turner, S. Einfeld, 1999, American journal of medical genetics.

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

M. Shaw, J. Gécz, M. Stratton, 2010, European Journal of Human Genetics.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

J. Gécz, M. Stratton, P. Futreal, 2010, European Journal of Human Genetics.

The fragile (X) syndrome: the mutation problem.

P. Jacobs, G. Turner, S. Sherman, 1986, American journal of medical genetics.

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

I. Scheffer, M. Cowley, M. Dinger, 2017, European Journal of Human Genetics.

Genes on the X chromosome are important in undiagnosed mental retardation.

B. Tonge, M. Partington, G. Turner, 2000, American journal of medical genetics.

Mortality in the fragile X syndrome: preliminary data.

M. Partington, G. Turner, S. Laing, 1992, American journal of medical genetics.

X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.

G. Turner, A. Daniel, M. Frost, 1980, The Journal of pediatrics.

Marker X chromosomes, mental retardation and macro-orchidism.

G. Turner, A. Daniel, R. Till, 1978, The New England journal of medicine.

X-linked mental retardation associated with macro-orchidism.

G. Turner, B. Turner, P. Procopis, 1975, Journal of medical genetics.

Exon deletions and duplications in BRCA1 detected by semiquantitative PCR.

M. Robinson, G. Turner, D. Bishop, 2000, Genetic testing.

Familial microcephaly with normal intelligence in a patient with acute lymphoblastic leukemia

D. Heney, I. Lewis, G. Turner, 1992, Cancer.

Population screening for fragile X

M. Partington, G. Turner, S. Laing, 1992, The Lancet.

The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers.

G. Turner, R. Brookwell, A. Daniel, 1983, American journal of medical genetics.

How many X-linked genes for non-specific mental retardation (MRX) are there?

A. Donnelly, J. Mulley, G. Turner, 1996, American journal of medical genetics.

Three new families with X‐linked mental retardation caused by the 428–451dup(24bp) mutation in ARX

J. Gécz, G. Turner, J. Boyle, 2004, Clinical genetics.

Mutations in the RSK2(RPS6KA3) gene cause Coffin–Lowry syndrome and nonsyndromic X‐linked mental retardation

M. Stratton, R. Wooster, S. Edkins, 2006, Clinical genetics.

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

E. Haan, F. McKenzie, G. Turner, 2014, Twin Research and Human Genetics.

Localization of non-specific X-linked mental retardation genes.

J. Mulley, G. Turner, B. Kerr, 1992, American journal of medical genetics.

Preventive screening for the fragile X syndrome.

G. Turner, S. Laing, S. Purvis-Smith, 1986, The New England journal of medicine.

Cystic fibrosis carrier screening in two New South Wales country towns.

G. Turner, P. Colley, S. Wake, 1996, The Medical journal of Australia.

Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).

G. Turner, P. Dalzell, R. Ogle, 1991, Journal of medical genetics.

Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome

M. Partington, G. Turner, C. Rogers, 2003, Clinical genetics.

Confirmation of early menopause in fragile X carriers.

M. Partington, G. Turner, D. Y. Moore, 1996, American journal of medical genetics.

Diagnosis of fragile-X syndrome: the experiences of parents.

M. Pembrey, G. Turner, A. Barnicoat, 1999, Journal of intellectual disability research : JIDR.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Peter Marynen, Rodney Scott, Patrick S Tarpey, 2008, American journal of human genetics.

X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization.

J. Mulley, G. Turner, A. Gedeon, 1994, American journal of medical genetics.

Restoring reproductive confidence in families with X‐linked mental retardation by finding the causal mutation

J. Gécz, G. Turner, B. Kerr, 2007, Clinical genetics.

Homocystinuria in New South Wales.

G. Turner, B. Wilcken, 1978, Archives of disease in childhood.

Dizygous twinning and premature menopause in fragile X syndrome

G. Turner, N. Martin, S. Wake, 1994, The Lancet.

X-linked mental retardation.

G. Turner, 1982, Psychological medicine.

Finding genes on the X chromosome by which homo may have become sapiens.

G. Turner, 1996, American journal of human genetics.

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

J. Gécz, P. Marynen, S. Lenzner, 2008, European Journal of Human Genetics.

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

G. Sutherland, J. Mulley, G. Turner, 1989, American journal of medical genetics.

RECURRENCE RISK OF MENTAL RETARDATION IN SIBS

G. Turner, B. Turner, E. Collins, 1971, The Medical journal of Australia.

Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation

Stratton, J. Gécz, P. Futreal, 2007 .

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

J. Gécz, B. D. de Vries, J. Clayton-Smith, 2004, Clinical genetics.

The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900)

J. Gécz, M. Partington, G. Turner, 2006, European Journal of Human Genetics.

Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

J. Gécz, R. Hennekam, A. Mégarbané, 2005, Journal of Medical Genetics.

UvA-DARE ( Digital Academic Repository ) Mutation screening in Borjeson-Forssman-Lehmann syndrome : identification of a novel de novo PHF 6 mutation in a female patient

R. Hennekam, A. Mégarbané, G. Turner, 2006 .

Oculocerebral syndrome with hypopigmentation (Cross syndrome): Report of two siblings born to consanguineous parents

G. Turner, J. Fryns, H. Berghe, 1988, Clinical genetics.

Do mothers of dizygotic twins have earlier menopause? A role for fragile X?

A. Heath, G. Turner, S. Healey, 1997, American journal of medical genetics.

Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

K. Davies, R. Winter, P. Jacobs, 1991, Cell.

The fragile X(q27) form of X-linked mental retardation: FUdR as an inducing agent for fra(X)(q27) expression in lymphocytes, fibroblasts, and amniocytes.

G. Turner, R. Brookwell, A. Daniel, 1982, American journal of medical genetics.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

J. Gécz, M. Stratton, P. Futreal, 2007, Nature Genetics.

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

J. Gécz, M. Stratton, P. Futreal, 2008, American journal of human genetics.

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

I. Scheffer, M. Shaw, J. Gécz, 2002, Nature Genetics.

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

J. Gécz, R. Reinhardt, S. Lenzner, 2005, American journal of human genetics.

Multilocus analysis of the fragile X syndrome

C. Schwartz, W. Brown, M. Krawczak, 1988, Human Genetics.

Linkage between the fragile X and F9, DXS52 (St14), DXS98 (4D-8) and DXS105 (cX55.7).

G. Sutherland, J. Mulley, G. Turner, 1988, American journal of medical genetics.

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability

B. Tonge, G. Turner, S. Einfeld, 2014, American journal of medical genetics. Part A.

New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.

J. Mulley, G. Turner, M. Wilson, 1991, American journal of medical genetics.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

M. Shaw, J. Gécz, M. Stratton, 2010, American journal of human genetics.

Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning

G. Taylor, G. Turner, E. Sheridan, 2001, Journal of medical genetics.

A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.

G. Sutherland, J. Mulley, M. Partington, 1988, American journal of medical genetics.

Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2

M. Partington, G. Turner, K. Fagan, 2000, Journal of medical genetics.

The marker (X) syndrome: a cytogenetic and genetic analysis

N. Morton, P. Jacobs, G. Turner, 1984, Annals of human genetics.

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

M. Shaw, J. Gécz, M. Stratton, 2010, Nature Genetics.

Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

M. Shaw, J. Gécz, J. Clayton-Smith, 2002, Nature Genetics.

Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome.

D. Schlessinger, J. Mulley, G. Turner, 1996, American journal of medical genetics.

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

B. D. de Vries, J. Veltman, H. Bokhoven, 2005, Journal of Medical Genetics.

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

N. Nowak, J. Conroy, G. Turner, 2009, BMJ Case Reports.

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

N. Nowak, J. Conroy, G. Turner, 2007, Journal of Medical Genetics.

Longitudinal course of behavioural and emotional problems of young persons with Prader-Willi, Fragile X, Williams and Down syndromes

B. Tonge, G. Turner, T. Parmenter, 1999 .

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

C. Woods, G. Turner, G. Karbani, 2000, American journal of human genetics.

hereditary sideroblastic anaemia . Linkage analysis of a large pedigree with

G. Taylor, G. Turner, R. Mueller, 2022 .

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.

K. Friend, M. Shaw, J. Gécz, 2007, American journal of human genetics.

Recurrence risks for relatives in families with an isolated case of the fragile X syndrome.

G. Turner, S. Sherman, A. Rogatko, 1988, American journal of medical genetics.

Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.

G. Taylor, G. Turner, R. Mueller, 1995, Journal of medical genetics.

Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes.

M. Partington, G. Turner, 1999, American journal of medical genetics.

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

M. Partington, G. Turner, K. Fagan, 1997, Journal of medical genetics.

Novel JARID1C/SMCX mutations in patients with X‐linked mental retardation

R. Reinhardt, S. Lenzner, H. Ropers, 2006, Human mutation.

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2008, American journal of human genetics.

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

N. E. Morton, P. A. Jacobs, N. Morton, 2004, Human Genetics.

X-linked mental retardation

G. Turner, B. Turner, 1974, Journal of medical genetics.

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.

J. Mulley, G. Turner, C. Oley, 1999, American journal of medical genetics.

Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

J. Gécz, P. Palta, H. Ropers, 2007, European journal of medical genetics.

X‐linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males

G. Turner, M. Edwards, Des Mulcahy, 1988, Clinical genetics.

1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson–Forssman–Lehmann syndrome family

J. Gécz, M. Partington, G. Turner, 2004, European Journal of Human Genetics.

Chromosome abnormalities and genetic counselling. Oxford monographs on medical genetics no.

G. Turner, 1990 .

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation

B. Oostra, G. Turner, D. Halley, 1995, Journal of medical genetics.

Fragile-X syndrome: unique genetics of the heritable unstable element.

D. Loesch, R. Richards, S. Yu, 1992, American journal of human genetics.

HOMOCYSTINURIA: A REPORT OF TWO AUSTRALIAN FAMILIES *

G. Turner, Judith Dey, B. Turner, 1967 .

X‐linked Mental Retardation Without Physical Abnormality: Renpenning's Syndrome

G. Turner, B. Turner, E. Collins, 1971 .

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Steffen Lenzner, Constance Scharff, Kirsten Hoffmann, 2003, Nature Genetics.

Pericentromeric genes for non-specific X-linked mental retardation (MRX).

J. Mulley, G. Turner, B. Kerr, 1994, American journal of medical genetics.

Börjeson-Forssman-Lehmann syndrome localization.

K. Buetow, K. Mathews, J. Mulley, 1989, American journal of medical genetics.

Is fragile X syndrome a risk factor for dizygotic twinning?

D. Duffy, G. Turner, S. Healey, 1997, American journal of medical genetics.

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

C. Tyler-Smith, T. Ogata, G. Turner, 1993, Journal of medical genetics.

Experience with direct molecular diagnosis of fragile X.

D. Loesch, R. Richards, S. Yu, 1992, Journal of medical genetics.

X-linked mental retardation

J. Opitz, G. Turner, 1982, Psychological Medicine.

Turner stigmata on Yp . Chromosomal localisation of a gene ( s ) for

C. Tyler-Smith, T. Ogata, G. Turner, 2022 .

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2006, American journal of human genetics.

9th international workshop on fragile X syndrome and X-linked mental retardation.

G. Ramakers, D. Nelson, C. Schwartz, 2000, American journal of medical genetics.

NEW OVERGROWTH SYNDROME AND FGFR3 DOSAGE EFFECT. AUTHORS' REPLY

M. Partington, G. Turner, G. Neri, 1998 .

The influence of socioeconomic factors on the occurrence of fetal alcohol syndrome.

G. Turner, D. Gromisch, C. Schuster, 1987, Advances in alcohol & substance abuse.

X-linked mental retardation with dystonic movements of the hands.

G. Sutherland, J. Mulley, M. Partington, 1988, American journal of medical genetics.

Syndromic form of X‐linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22

J. Mulley, M. Partington, G. Turner, 2003, American journal of medical genetics. Part A.

Localisation of the MRX3 gene for non-specific X linked mental retardation.

J. Mulley, G. Turner, B. Kerr, 1991, Journal of medical genetics.

A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.

J. Mulley, G. Turner, G. Suthers, 1988, American journal of medical genetics.

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

J. Gécz, M. Mangelsdorf, M. Partington, 2002, American journal of medical genetics.

Non-specific X linked mental retardation.

J. Mulley, M. Partington, G. Turner, 1991, Journal of medical genetics.

sibs in an institution . ( Renpenning ' s syndrome ) in without physical abnormality X-linked mental retardation

G. Turner, B. Turner, D. Lindsay, 2006 .

X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution.

G. Turner, B. Turner, D. Lindsay, 1972, Journal of medical genetics.

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11

S. Lenzner, H. Ropers, G. Turner, 2007, European Journal of Human Genetics.

Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)

J. Mulley, G. Turner, A. Gedeon, 1996, American journal of medical genetics.

Examination of factors associated with instability of the FMR1 CGG repeat.

C. Schwartz, W. Brown, A. Ashley-Koch, 1998, American journal of human genetics.

Case finding for the fragile X syndrome and its consequences

M. Partington, G. Turner, S. Wake, 1997, BMJ.

Informed choice in fragile X syndrome and its effects on prevalence.

G. Turner, S. Laing, S. Wake, 1996, American journal of medical genetics.

FMR2 expression in families with FRAXE mental retardation.

E. Haan, J. Gécz, B. Oostra, 1997, Human molecular genetics.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Michael R Stratton, N. Brown, I. Scheffer, 2009, Journal of Medical Genetics.

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

K. Friend, J. Gécz, M. Stratton, 2015, Journal of Medical Genetics.

Clinical screening score for the fragile X (Martin-Bell) syndrome.

M. Partington, G. Turner, S. Laing, 1991, American journal of medical genetics.

Fragile (X) expression, age and the degree of intellectual handicap in the male.

M. Partington, G. Turner, 1988, American journal of medical genetics.

Counselling risk figures for fragile X carrier females of varying band sizes for use in predicting the likelihood of retardation in their offspring.

G. Turner, S. Laing, A. Turner, 1994, American journal of medical genetics.

A new syndrome with mental retardation, short stature and an Xq duplication.

M. Partington, G. Turner, V. Richardson, 1988, American journal of medical genetics.

Is there a fragile(X) negative Martin-Bell syndrome?

M. Partington, G. Turner, S. Laing, 1988, American journal of medical genetics.

Inheritance of the oto-palato-digital syndrome.

G. Turner, R. Gorlin, 1970, American journal of diseases of children.

Original articles Localisation oftheMRX3 gene fornon-specific X linked mental retardation

G. Turner, 1991 .

Normal age of menarche in fragile X syndrome.

M. Partington, G. Turner, B. Burgess, 1996, American journal of medical genetics.

Neonatal screening for cystic fibrosis

G. Turner, B. Wilcken, T. Dudding, 2000, The Lancet.

Genes for intelligence on the X chromosome Some 20 years ago

G. Turner, R. Lehrke, 2004 .

Fragile X Syndrome: Diagnosis, Treatment and Research

G. Turner, 1997 .

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

K. Friend, M. Shaw, J. Gécz, 2016, European Journal of Human Genetics.

X-linked mental retardation

G. Turner, B. Turner, 1974, Journal of Medical Genetics.

Cystic fibrosis screening and community genetics.

G. Turner, B. Wilcken, H. Griffiths, 1991, Journal of Medical Genetics.

Intelligence and the X chromosome

G. Turner, 1996, The Lancet.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

M. Shaw, J. Gécz, M. Stratton, 2010, American journal of human genetics.

A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies

G. Turner, F. Collins, M. Partington, 1990, Clinical genetics.