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Angela Barnicoat

Research Profile

Disorders

Concepts & Ideas

Pedigree

Living Beings

Anatomy

Genes & Molecular Sequences

Chromosome Fragile Sites

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Endocrinology

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Publications

TOP 3
Dorothy V M Bishop; Patricia A Boyd; Alan Fryer; Patricia A Jacobs; Katherine Lachlan; Victoria Leggett; Kay Metcalfe; Prisca Middlemiss; Kate Nation; Deborah Shears; Sarah Smithson; Diana Wellesley; Angela Barnicoat; Gaia Scerif
Autism, language and communication in children with sex chromosome trisomies.
Joanna Kenny; Melissa M Lees; Nicholas J Lench; Deborah Morrogh; Rodger Palmer; William G Van't Hoff; Jonathan J Waters; Angela Barnicoat; Susan Drury; Detlef Bockenhauer
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Caroline E Brain; Sarah M Creighton; Imran Mushtaq; Polly A Carmichael; Angela Barnicoat; John HONOUR; Victor Larcher; John C Achermann
Holistic management of DSD.

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All Publications

2011: Dorothy V M Bishop; Patricia A Boyd; Alan Fryer; Patricia A Jacobs; Katherine Lachlan; Victoria Leggett; Kay Metcalfe; Prisca Middlemiss; Kate Nation; Deborah Shears; Sarah Smithson; Diana Wellesley; Angela Barnicoat; Gaia Scerif
Autism, language and communication in children with sex chromosome trisomies.
Archives of disease in childhood 2011;96(10):954-9.
2011: Joanna Kenny; Melissa M Lees; Nicholas J Lench; Deborah Morrogh; Rodger Palmer; William G Van't Hoff; Jonathan J Waters; Angela Barnicoat; Susan Drury; Detlef Bockenhauer
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Pediatric nephrology (Berlin, Germany) 2011;26(8):1331-4.
2010: Caroline E Brain; Sarah M Creighton; Imran Mushtaq; Polly A Carmichael; Angela Barnicoat; John HONOUR; Victor Larcher; John C Achermann
Holistic management of DSD.
Best practice & research. Clinical endocrinology & metabolism 2010;24(2):335-54.
2009: Clare Turnbull; Deborah Ruddy; Angela Barnicoat
Nasopharyngeal teratoma and diaphragmatic hernia: no longer a random association but a new syndrome?
Clinical dysmorphology 2009;18(3):131-4.
2009: Andrew R Cullinane; Anna Straatman-Iwanowska; Jeong K Seo; Jae S Ko; Kyung S Song; Maria Gizewska; Dariusz Gruszfeld; Dorota Gliwicz; Beyhan Tuysuz; Gulin Erdemir; Rachid Sougrat; Yoshiyuki Wakabayashi; Rupert Hinds; Angela Barnicoat; Hanna Mandel; David Chitayat; Björn Fischler; Angels Garcia-Cazorla; Alex S Knisely; Deirdre A Kelly; Eamonn R Maher; Paul Gissen
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Human mutation 2009;30(2):E330-7.
2006: Melissa M Lees; Fiona Connelly; Loshan Kangesu; Brian C Sommerlad; Angela Barnicoat
Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome?
Clinical dysmorphology 2006;15(3):155-9.
2005: Tomoko Murakami; Naoko Hosomi; Naoki Oiso; Maria Luisa Giovannucci Uzielli; Robert Aquaron; Masako Mizoguchi; Atsushi Kato; Masamitsu Ishii; Maria Bitner-Glindzicz; Angela Barnicoat; Louise Wilson; Katsuhiko Tsukamoto; Hiroshi Ueda; Anthony J Mancini; Tamio Suzuki; Jacquely Riley; Jan Miertus; Mauricio Camargo; Alexandra Santoro-Zea; Joan Atkin; Kazuyoshi Fukai
Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism.
The Journal of investigative dermatology 2005;124(3):670-2.
2004: Tomoko Murakami; Kazuyoshi Fukai; Naoki Oiso; Naoko Hosomi; Atsushi Kato; Cheryl Garganta; Angela Barnicoat; Francis Poppelaars; Robert Aquaron; Amy S Paller; Masamitsu Ishii
New KIT mutations in patients with piebaldism.
Journal of dermatological science 2004;35(1):29-33.
2003: Sarah M Creighton; Philip G Ransley; Patrick Duffy; Duncan Wilcox; Imran Mushtaq; Peter M Cuckow; Christopher R J Woodhouse; Catherine L Minto; Naomi S Crouch; Richard Stanhope; Ieuan Hughes; Mehul T Dattani; Peter Hindmarsh; Caroline Brain; John Achermann; Gerard Conway; Lih-Mei Liao; Angela Barnicoat; Les Perry
Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.
The Journal of clinical endocrinology and metabolism 2003;88(7):3455; author reply 3456.
2001: S Rickard; M Parker; W van't Hoff; Angela Barnicoat; I Russell-Eggitt; Robin M Winter; Maria Bitner-Glindzicz
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.
Human genetics 2001;108(5):398-403.
2001: Karin Buiting; Angela Barnicoat; Christina Lich; Marcus E Pembrey; S Malcolm; Bernhard Horsthemke
Disruption of the bipartite imprinting center in a family with Angelman syndrome.
American journal of human genetics 2001;68(5):1290-4.
2001: Bert B A de Vries; Melissa M Lees; Samantha J L Knight; Regina Regan; D Corney; Jonathan Flint; Angela Barnicoat; Robin M Winter
Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13).
American journal of medical genetics 2001;99(4):314-9.
2001: Marcus E Pembrey; Angela Barnicoat; B Carmichael; Martin Bobrow; G Turner
An assessment of screening strategies for fragile X syndrome in the UK.
Health technology assessment (Winchester, England) 2001;5(7):1-95.
1999: Karin Buiting; Christina Lich; S Cottrell; Angela Barnicoat; Bernhard Horsthemke
A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp.
Human genetics 1999;105(6):665-6.
1999: B Carmichael; Marcus E Pembrey; G Turner; Angela Barnicoat
Diagnosis of fragile-X syndrome: the experiences of parents.
Journal of intellectual disability research : JIDR 1999;43 ( Pt 1)():47-53.
1997: Angela Barnicoat; I Abusaad; CM Mackie; M F Robards
Two sibs with partial trisomy 2q.
American journal of medical genetics 1997;70(2):166-70.
1997: Angela Barnicoat; Q Wang; J Turk; E Green; Christopher G Mathew; G Flynn; V Buckle; M Hirst; K Davies; Martin Bobrow
Clinical, cytogenetic, and molecular analysis of three families with FRAXE.
Journal of medical genetics 1997;34(1):13-7.
1996: Angela Barnicoat; J L Bonneau; E Boyd; Zoe Docherty; S J Fennell; J L Huret; M King; E L Maltby; S McManus; Daniela T Pilz; E Shafei-Benaissa; M Super; J Tolmie
Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment.
Clinical genetics 1996;49(1):20-7.
1995: C P Bennett; Angela Barnicoat; F Cotter; Q Wang; Christopher G Mathew
A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255.
Journal of medical genetics 1995;32(9):757-8.
1994: Angela Barnicoat; MJ Seller; C P Bennett
Fetus with features of Crane-Heise syndrome and aminopterin syndrome sine aminopterin (ASSAS).
Clinical dysmorphology 1994;3(4):353-7.
1993: Q Wang; E Green; Angela Barnicoat; D Garrett; M Mullarkey; Martin Bobrow; Christopher G Mathew
Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome.
Lancet 1993;342(8878):1025-6.
1993: Samantha J L Knight; A V Flannery; Mark Hirst; L Campbell; Z Christodoulou; S R Phelps; Jennifer J Pointon; H R Middleton-Price; Angela Barnicoat; Marcus E Pembrey
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.
Cell 1993;74(1):127-34.
1993: Angela Barnicoat; Zoe Docherty; Martin Bobrow
Where have all the fragile X boys gone?
Developmental medicine and child neurology 1993;35(6):532-9.
1993: Mark Hirst; Angela Barnicoat; G Flynn; Q Wang; M Daker; V J Buckle; Kay E Davies; Martin Bobrow
The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE.
Human molecular genetics 1993;2(2):197-200.