J. Clayton-smith: search on Z-Library

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101

The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs

Bromley, R. L., Mawer, G. E., Briggs, M., Cheyne, C., Clayton-Smith, J., Garcia-Finana, M., Kneen, R., Lucas, S. B., Shallcross, R., Baker, G. A., Baker, G., Briggs, M., Bromley, R., Clayton-Smith, J.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2013

Language:

english

File:

PDF, 152 KB

english, 2013

102

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

King, D. A., Fitzgerald, T. W., Miller, R., Canham, N., Clayton-Smith, J., Johnson, D., Mansour, S., Stewart, F., Vasudevan, P., Hurles, M. E.

Journal:

Genome Research

Year:

2014

Language:

english

File:

PDF, 1.35 MB

english, 2014

103

Angelman syndrome: a review of the clinical and genetic aspects

Clayton-Smith, J

Journal:

Journal of Medical Genetics

Year:

2003

Language:

english

File:

PDF, 418 KB

english, 2003

104

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

Beleza-Meireles, A., Clayton-Smith, J., Saraiva, J. M., Tassabehji, M.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 339 KB

english, 2014

105

Delivering the promise of genomics for ophthalmology: congenital cataract as an exemplar

Gillespie, Rachel L., Ramsden, Simon C., Clayton-Smith, Jill, Ashworth, Jane L., Black, Graeme C., Lloyd, Chris

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014

106

Bardet-Biedl Syndrome: An Atypical Phenotype in Brothers with a Proven BBS1 Mutation

Cannon, Paul S., Clayton-Smith, Jill, Beales, Philip L., Lloyd, I. Christopher

Journal:

Ophthalmic Genetics

Year:

2008

Language:

english

File:

PDF, 824 KB

english, 2008

107

Cognitive Function at 3 Years of Age after Fetal Exposure to Antiepileptic Drugs

Meador, Kimford J., Baker, Gus A., Browning, Nancy, Clayton-Smith, Jill, Combs-Cantrell, Deborah T., Cohen, Morris, Kalayjian, Laura A., Kanner, Andres, Liporace, Joyce D., Pennell, Page B., Privitera

Journal:

Boston Medical and Surgical Journal

Year:

2009

Language:

english

File:

PDF, 432 KB

english, 2009

108

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

Wieczorek, Dagmar, Newman, William G., Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian, Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.31 MB

english, 2014

109

Genetic counselling and parental decisions following antenatal diagnosis of sex chromosome aneuploidies

Clayton-smith, Jill, Andrews, T., Donnai, Dian

Journal:

Journal of Obstetrics & Gynaecology

Year:

1989

Language:

english

File:

PDF, 227 KB

english, 1989

110

Cerebral screening in patients with hereditary haemorrhagic telangiectasia

Jackson, A., Briggs, T. A., Clayton-Smith, J.

Journal:

Internal Medicine Journal

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

111

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies

Douzgou, S., Breen, C., Crow, Y. J., Chandler, K., Metcalfe, K., Jones, E., Kerr, B., Clayton-Smith, J.

Journal:

Archives of Disease in Childhood

Year:

2012

Language:

english

File:

PDF, 198 KB

english, 2012

112

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

de Munnik, Sonja A, Bicknell, Louise S, Aftimos, Salim, Al-Aama, Jumana Y, van Bever, Yolande, Bober, Michael B, Clayton-Smith, Jill, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, van Hagen, Johanna

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 505 KB

english, 2012

113

Dysmorphology services: a snapshot of current practices and a vision for the future

Douzgou, S., Chervinsky, E., Gyftodimou, Y., Kitsiou-Tzeli, S., Shalev, S., Kanavakis, E., Donnai, D., Clayton-Smith, J.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

114

Angelman syndrome.

Clayton-Smith, J, Pembrey, M E

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.07 MB

english, 1992

115

Evolving phenotype of Marfan's syndrome

Lipscomb, K. J, Clayton-Smith, J., Harris, R.

Journal:

Archives of Disease in Childhood

Year:

1997

Language:

english

File:

PDF, 171 KB

english, 1997

116

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

Gillespie, R. L., Urquhart, J., Lovell, S. C., Biswas, S., Parry, N. R. A., Schorderet, D. F., Lloyd, I. C., Clayton-Smith, J., Black, G. C.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 1016 KB

english, 2015

117

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

Ockeloen, C. W., Simpson, J., Urquhart, J., Davies, J., Bowden, M., Patrick, K., Dore, J., Clayton-Smith, J.

Journal:

Archives of Disease in Childhood

Year:

2014

Language:

english

File:

PDF, 569 KB

english, 2014

118

Diagnostic Dysmorphology

Clayton-Smith, J.

Journal:

Archives of Disease in Childhood

Year:

1992

Language:

english

File:

PDF, 276 KB

english, 1992

119

Medical genetics: advances in brief: Maternal mild hyperphenylalaninemia: results of treated and untreated pregnancies in two sisters

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 268 KB

english, 1995

120

Medical genetics: advances in brief: Mitochondrial DNA rearrangements with onset as chronic diarrhoea with villous atrophy

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 308 KB

english, 1994

121

Medical genetics: advances in brief: Multiple sites of anterior neural tube closure in humans: evidence from anterior neural tube defects (anencephaly)

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 278 KB

english, 1995

122

Medical genetics: advances in brief: Magnetic resonance imaging in phenylketonuria

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 292 KB

english, 1996

123

Cardiovascular malformations in Turner's syndrome.

Parchment, C, Clayton-Smith, J

Journal:

Archives of Disease in Childhood

Year:

1995

Language:

english

File:

PDF, 310 KB

english, 1995

124

Syndromes of the Head and Neck

Clayton-Smith, J.

Journal:

Archives of Disease in Childhood

Year:

1993

Language:

english

File:

PDF, 316 KB

english, 1993

125

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Black, G C, Perveen, R, Hatchwell, E, Reck, A, Clayton-Smith, J

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 809 KB

english, 1998

126

Anterior segment dysgenesis in mosaic Turner syndrome

Lloyd, I C, Haigh, P M, Clayton-Smith, J, Clayton, P, Price, D A, Ridgway, A E A, Donnai, D

Journal:

British Journal of Ophthalmology

Year:

1997

Language:

english

File:

PDF, 187 KB

english, 1997

127

FETAL EFFECTS OF SELECTIVE SEROTONIN REUPTAKE INHIBITOR TREATMENT DURING PREGNANCY: IMMEDIATE AND LONGER TERM CHILD OUTCOMES

BROMLEY, REBECCA L, WIECK, ANGELIKA, MAKAROVA, DARIA, TOWER, CLARE, WOOD, AMANDA, CLAYTON-SMITH, JILL

Journal:

Fetal and Maternal Medicine Review

Year:

2012

Language:

english

File:

PDF, 347 KB

english, 2012

128

Medical genetics: advances in brief: Acquisition of Pseudomonas cepacia at summer camps for cystic fibrosis

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 260 KB

english, 1994

129

A further patient with the lethal type of Larsen syndrome.

Clayton-Smith, J, Donnai, D

Journal:

Journal of Medical Genetics

Year:

1988

Language:

english

File:

PDF, 401 KB

english, 1988

130

Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder

Clayton-Smith, Jill, Giblin, Carol, Smith, Rupert A., Dunn, Carolyn, Willatt, Lionel

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 162 KB

english, 2010

131

De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability

Banka, Siddharth, Lloyd, I. Chris, Black, Graeme, Trueman, Stephen, Gibbs, John, Clayton-Smith, Jill

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 118 KB

english, 2010

132

Cutaneous features in 17q21.31 deletion syndrome

Wright, Emma Burkitt, Donnai, Dian, Johnson, Diana, Clayton-Smith, Jill

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 260 KB

english, 2011

133

Medical genetics: advances in brief: Neuroblastoma and congenital cardiovascular malformations

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 245 KB

english, 1996

134

Medical genetics: advances in brief: Specification of the neurobehavioural phenotype in males with fragile X syndrome

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 296 KB

english, 1995

135

Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis

Quinn, S.M., Black, G.C.M., Biswas, S., Clayton-Smith, J., Lloyd, I.C.

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 174 KB

english, 2004

136

22q11 deletion: a cause of asymmetric crying facies.

Stewart, H S, Clayton-Smith, J

Journal:

Archives of Disease in Childhood

Year:

1996

Language:

english

File:

PDF, 292 KB

english, 1996

137

Multiple Congenital Anomalies. A Diagnostic Compendium

Clayton-Smith, J.

Journal:

Archives of Disease in Childhood

Year:

1993

Language:

english

File:

PDF, 320 KB

english, 1993

138

Medical genetics: advances in brief: Health supervision for children with achondroplasia

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 148 KB

english, 1995

139

Molecular mechanisms in Angelman syndrome: a survey of 93 patients.

Chan, C T, Clayton-Smith, J, Cheng, X J, Buxton, J, Webb, T, Pembrey, M E, Malcolm, S

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.44 MB

english, 1993

140

Medical genetics: advances in brief: Myophosphorylase deficiency: an unusually severe form with myoglobinuria

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 267 KB

english, 1995

141

A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.

Clayton-Smith, J, Donnai, D

Journal:

Journal of Medical Genetics

Year:

1989

Language:

english

File:

PDF, 909 KB

english, 1989

142

Medical genetics: advances in brief: Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 286 KB

english, 1994

143

Medical genetics: advances in brief: Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor-suppressor gene WT1

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 281 KB

english, 1994

144

Medical genetics: advances in brief: Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 448 KB

english, 1996

145

Medical genetics: advances in brief: Autosomal dominant transmission of the Pallister-Hall syndrome

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1994

Language:

english

File:

PDF, 315 KB

english, 1994

146

Apple peel atresia in association with bilateral colobomatous malformation of the optic nerve heads, dysmorphic features, and learning disability – a new syndrome?

Waters, F.M., Lloyd, I.C., Clayton-Smith, J.

Journal:

Ophthalmic Genetics

Year:

2000

Language:

english

File:

PDF, 211 KB

english, 2000

147

Medical genetics: advances in brief

Clayton-Smith, J.

Journal:

Journal of Medical Genetics

Year:

1995

Language:

english

File:

PDF, 266 KB

english, 1995

148

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Clayton-Smith, J, Webb, T, Cheng, X J, Pembrey, M E, Malcolm, S

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 692 KB

english, 1993

149

Spontaneous aortic rupture in a 22-year-old.

Memon, M. A., Nicholson, C. M., Clayton-Smith, J.

Journal:

Postgraduate Medical Journal

Year:

1996

Language:

english

File:

PDF, 465 KB

english, 1996

150

FETAL DYSMORPHOLOGY

CLAYTON-SMITH, JILL

Journal:

Fetal and Maternal Medicine Review

Year:

2012

Language:

english

File:

PDF, 421 KB

english, 2012