S. Yu

发表

Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins.

R. Richards, K. Holman, S. Yu, 1993, Human molecular genetics.

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

R I Richards, D. Schlessinger, S. Warren, 1991, Science.

Telomere Capture as a Frequent Mechanism for Stabilization of the Terminal Chromosomal Deletion Associated with Inverted Duplication

S. Yu, W. Graf, S. Yu, 2010, Cytogenetic and Genome Research.

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

L. Biesecker, S. Yu, L. Weinstein, 2000, The Journal of clinical investigation.

Homozygosity for a 4‐bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation

S. Yu, H. Qin, W. Sam, 2001, Clinical genetics.

Frequency of truly cryptic subtelomere abnormalities – a study of 534 patients and literature review

E. Haan, L. Hinton, S. Yu, 2005, Clinical genetics.

Hereditary unstable DNA: a new explanation for some old genetic questions?

E. Haan, R. Richards, S. Yu, 1991, The Lancet.

Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH

P. Warburton, S. Yu, D. Barbouth, 2007, Cytogenetic and Genome Research.

Familial 22q11.2 duplication: a three‐generation family with a 3‐Mb duplication and a familial 1.5‐Mb duplication

S. Yu, J. Liebelt, E. Thompson, 2007, Clinical genetics.

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

I. Scheffer, J. Schouten, S. Berkovic, 2006, Neurology.

Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2.

R I Richards, M. Leppert, R. Richards, 1997, American journal of human genetics.

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

R. Richards, S. Yu, G. Sutherland, 1995, Nature.

X‐linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths

S. Yu, P. Harvey, C. Dolphin, 2005, Clinical genetics.

X‐linked myotubular myopathy in a family with three adult survivors

E. Haan, S. Yu, A. Bourne, 2003, Clinical genetics.

Fragile X genotype characterized by an unstable region of DNA

D. Schlessinger, al. et, S. Warren, 1991, Science.

FRAXE and mental retardation.

D. Loesch, S. Yu, A. Donnelly, 1995, Journal of medical genetics.

Isolation of a human DNA sequence which spans the fragile X.

S. Yu, R. D. Little, M. Pritchard, 1991, American journal of human genetics.

Fragile X syndrome without CCG amplification has an FMR1 deletion

A. Poustka, B. Korn, S. Yu, 1992, Nature Genetics.

Fragile-X syndrome: unique genetics of the heritable unstable element.

D. Loesch, R. Richards, S. Yu, 1992, American journal of human genetics.

Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.

R. Richards, S. Yu, G. Sutherland, 1997, Journal of medical genetics.

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.

R. Richards, K. Holman, S. Yu, 1991, Journal of medical genetics.

Experience with direct molecular diagnosis of fragile X.

D. Loesch, R. Richards, S. Yu, 1992, Journal of medical genetics.

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence.

L. Kornman, S. Yu, G. Sutherland, 1991, The New England journal of medicine.

Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome

S. Yu, H. Pan, P. Nelson, 2006, Clinical genetics.

Polymorphisms in the CAG repeat – a source of error in Huntington disease DNA testing

S. Yu, A. Fimmel, D. Fung, 2000, Clinical genetics.