M. Jones

发表

Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.

C. Stevens, J. Fryns, S. Tinschert, 1995, American journal of medical genetics.

Inter-laboratory comparison of DNA preservation in archival paraffin-embedded human brain tissue from participating centres on four continents

A. Vortmeyer, S. Love, M. Graeber, 2001, Neurogenetics.

A non-synonymous SNP in exon 3 of the KIT gene is responsible for the classic grey phenotype in alpacas (Vicugna pacos).

M. Richardson, K. Munyard, S. Brooks, 2019, Animal genetics.

Patient with X-linked Hypohidrotic Ectodermal Dysplasia

S. Rastan, N. Brockdorff, J. Gault, 2006 .

Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.

J. Gault, N. S. Thomas, J. Zonana, 1994, Journal of medical genetics.

High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.

S. Rastan, N. Brockdorff, A. Clarke, 1992, American journal of human genetics.

Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment.

S. Rastan, N. Brockdorff, J. Gault, 1993, American journal of human genetics.

De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy

M. Upadhyaya, L. Tyfield, P. Lunt, 1993, Clinical genetics.

The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.

Golder N Wilson, C. Stevens, S. Tinschert, 1994, Genetic counseling.

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.

M. Leppert, R. Albin, P. Hedera, 1996, American journal of human genetics.