M. Barrow

发表

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

C. Woods, G. Taylor, R. Newbury-Ecob, 2005, Journal of Medical Genetics.

Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population

E. Kinning, P. Vasudevan, J. Konje, 2010, Prenatal diagnosis.

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

J. Lamb, A. Wilkie, P. Harris, 1990, American journal of human genetics.

Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum a

R. Hennekam, C. Antignac, A. Kariminejad, 2010 .

Clinical Features andMolecular Analysis ofthea Thalsemia/Mental Retardation Syndromes. 1.CasesDueto Deletions Involving ChromosomeBand16pl3.3

J. Lamb, J. Tolmie, D. Weatherall, 1990 .

Microcephalic osteodysplastic primordial short stature type II with café‐au‐lait spots and moyamoya disease: Another patient

C. Hall, I. Young, M. Barrow, 2004, American journal of medical genetics. Part A.

Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

D. Donnai, M. Barrow, 1993, American journal of medical genetics.

Fronto‐metaphyseaI dysplasia. Further delineation of the clinical syndrome

M. Barrow, J. Fitzsimmons, G. Gilbert, 1982, Clinical genetics.

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

P. Scambler, W. Reardon, R. Winter, 2000, American journal of human genetics.

A new syndrome. Short limbs, abnormal facial appearance, and congenital heart defect.

M. Barrow, J. Fitzsimmons, 1984, American journal of medical genetics.

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

R. Hennekam, N. S. Thomas, C. Eng, 2004, Journal of Medical Genetics.

20 patients with 2 q 37 . 3 monosomy : definition of minimum deletion intervals for key phenotypes

R. Hennekam, N. S. Thomas, C. Eng, 2004 .

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.

N. Carter, A. Mungall, M. Walter, 2008, Human molecular genetics.

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

P. Jeggo, K. Prescott, G. Stewart, 2012, PLoS genetics.

Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature.

R. Hennekam, M. Barrow, H. Kääriäinen, 1993, American journal of medical genetics.

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

R. Hochstenbach, M. Poot, E. V. van Daalen, 2009, Clinical genetics.

Familial congenital diaphragmatic hernia: Prenatal diagnosis, management, and outcome

P. Mckeever, M. Barrow, E. Neale, 1993, Prenatal diagnosis.

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

J. Flint, A. Read, R. Trembath, 1995, American journal of human genetics.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

S. Nik-Zainal, K. Devriendt, R. Hennekam, 2008, Human mutation.

Angelman syndrome phenotype associated with mutations inMECP2, a gene encoding a methyl CpG binding protein

J. Clayton-Smith, B. Kerr, S. Ramsden, 2001, Journal of medical genetics.

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

L. Kearney, P. Njølstad, S. Twigg, 1998, American journal of human genetics.

Ophthalmological aspects of Pierson syndrome.

Dorothy A. Thompson, R. Hennekam, M. Zenker, 2008, American journal of ophthalmology.

Holoprosencephaly, telecanthus and ectrodactyly: a second case

J. Zuccollo, I. Young, M. Barrow, 1992, Clinical dysmorphology.

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.

N. Carter, A. Mungall, M. Walter, 2008, Human molecular genetics.