C. Meaney

发表

New aids for the non‐invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell‐free fetal DNA in maternal plasma

A. Barrett, A. Khalil, L. Chitty, 2011, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

A sensitive mutation screening strategy for Fabry disease: Detection of nine mutations in the α‐galactosidase A gene

C. Meaney, C. P. Morris, L. Blanch, 1996, Human mutation.

Non‐invasive prenatal determination of fetal sex: translating research into clinical practice

L. Chitty, G. Daniels, G. Norbury, 2011, Clinical genetics.

Prospective Register of Outcomes of Free-fetal DNA testing (PROOF) - results of the first year's audit

L. Chitty, G. Daniels, G. Norbury, 2007 .

A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.

C. P. Morris, C. Meaney, L. Blanch, 1994, Human molecular genetics.

Workshop report on the extraction of foetal DNA from maternal plasma

F. Crea, M. Sprenger-Haussels, D. Maddocks, 2007, Prenatal diagnosis.

The postnatal features of bent bone dysplasia-FGFR2 type.

J. Hurst, R. Scott, L. Jenkins, 2014, Clinical dysmorphology.

Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry

M. Morris, P. Clayton, J. Leonard, 1998, Archives of disease in childhood.

Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres

U. Ramaswami, E. Young, A. Vellodi, 1997, Archives of disease in childhood.

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

C. Beesley, E. Young, A. Vellodi, 2001, Human Genetics.

Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency

H. Chapel, H. Gaspar, K. Gilmour, 2004, Clinical and experimental immunology.

Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain-deficient severe combined immunodeficiency.

A. Gennery, B. Angus, T. Lester, 2011, The Journal of allergy and clinical immunology.

Sequence of the human iduronate 2-sulfatase (IDS) gene.

C. P. Morris, J. Hopwood, C. Meaney, 1993, Genomics.

Pseudodeficiency of arylsulphatase A: Strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms

E. Young, B. Winchester, C. Meaney, 1995, Journal of Inherited Metabolic Disease.

Non-invasive prenatal diagnosis.

G. Norbury, C. Meaney, 2011, Methods in molecular biology.

Comparison of the promoter proximal regions of the toxin-co-regulated tcp gene cluster in classical and El Tor strains of Vibrio cholerae O1.

M. Ogierman, R. Faast, S. Attridge, 1996, Gene.

Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma

G. Norbury, C. Meaney, 2009, Prenatal diagnosis.