J. Tarleton

发表

Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.

S. Bale, Soma Das, S. Aradhya, 2014, The Journal of molecular diagnostics : JMD.

Fragile X syndrome and deletions in FMR1: new case and review of the literature.

M. Macias, Michelle M. Macias, G. Pai, 1997, American journal of medical genetics.

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation.

A. Carroll, V. Proud, R. Michaelis, 2001, American journal of medical genetics.

DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader–Willi syndromes and imprinting

D. J. Driscoll, L. Surh, Thomas P. Yang, 2000, Prenatal diagnosis.

Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: a prospective multicenter analysis.

G. Fisch, N. Carpenter, R. Simensen, 1996, American journal of medical genetics.

Genotype-Phenotype Correlations in the Fragile X Syndrome, Using Direct Diagnosis with Probe StB 12.3: The First 2,253 Cases

P. Jacobs, D. Schorderet, F. Rousseau, 2007 .

Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B.

E. Pivnick, A. Tunnacliffe, R. Michaelis, 1998, American journal of medical genetics.

A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype [Letter To Jmg]

S. Warren, A. Taylor, G. Fisch, 2005 .

Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers.

G. Spiridigliozzi, T. Iafolla, A. McConkie-Rosell, 1997, American journal of medical genetics.

The elusive Angelman syndrome critical region.

C. Woods, A. Smith, N. Nassif, 1997, Journal of medical genetics.

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

C. Mathew, F. Rousseau, A. Barnicoat, 1994, American journal of human genetics.

A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.

S. Warren, G. Spiridigliozzi, A. McConkie-Rosell, 1996, American journal of medical genetics.

Development of genomic reference materials for cystic fibrosis genetic testing.

S. Barker, M. Caggana, V. Pratt, 2009, The Journal of molecular diagnostics : JMD.

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.

C. Schwartz, A. Aylsworth, A. Lachiewicz, 1993, Human molecular genetics.

Down syndrome with biparental inheritance of der(14q21q) and maternally derived trisomy 21: confirmation by fluorescent in situ hybridization and microsatellite polymorphism analysis.

R. Michaelis, S. Lewin, G. Velagaleti, 1997, American journal of medical genetics.

Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles.

J. Longshore, M. Descartes, J. Tarleton, 1997, American journal of medical genetics.

Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization.

J. Simpson, L. Shulman, P. L. Gordon, 1995, American journal of medical genetics.

Molecular genetic advances in fragile X syndrome.

R. Saul, J. Tarleton, 1993, The Journal of pediatrics.

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.

S Schwartz, S. Schwartz, J. Opitz, 1997, American journal of medical genetics.

Characterization of the full fragile X syndrome mutation in fetal gametes

S. Warren, B. Oostra, E. Graaff, 1997, Nature Genetics.

Extraocular muscle hypertrophy in myotonia congenita.

I. MacDonald, Deepti Babu, J. Tarleton, 2008, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

The course of cognitive‐behavioral development in children with the FMR1 mutation, Williams–Beuren syndrome, and neurofibromatosis type 1: The effect of gender

G. Fisch, N. Carpenter, R. Simensen, 2010, American journal of medical genetics. Part A.

Lack of association between mutation size and cognitive/behavior deficits in fragile X males: a brief report.

G. Fisch, N. Carpenter, R. Simensen, 1996, American journal of medical genetics.

Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile.

A. Battaglia, G. Fisch, N. Carpenter, 2012, American journal on intellectual and developmental disabilities.

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.

E. Hoffman, B. Popovich, W. Seltzer, 1992, American journal of human genetics.

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

W. Brown, G. Spiridigliozzi, A. McConkie-Rosell, 1993, American journal of human genetics.

Dynamic mutations in human genes: A review of trinucleotide repeat diseases

J. Longshore, J. Tarleton, 1996, Journal of Genetics.

Molecular heterogeneity of the fragile X syndrome.

S. Knight, C. Schwartz, U. Froster-Iskenius, 1991, Nucleic acids research.

Using the polymerase chain reaction to maintain DNA probe inventories in clinical and diagnostic laboratories

J. Tarleton, C. Schwartz, 1991, Clinical genetics.

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

E. Hoffman, C. Angelini, E. Pegoraro, 1999, Human molecular genetics.

FMR1-Related Disorders

Robert A Saul, Jack C Tarleton, R. Saul, 2012 .

Clinical description of an adult male with psychosis who showed FMR1 gene methylation mosaicism.

S. K. Park, B. Raghu, J. Tarleton, 1998, American journal of medical genetics.

Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.

Tengyu Ma, N. Gerry, J. Gastier-Foster, 2011, The Journal of molecular diagnostics : JMD.

Studies of age‐correlated features of cognitive‐behavioral development in children and adolescents with genetic disorders

G. Fisch, W. Nance, N. Carpenter, 2007, American journal of medical genetics. Part A.

Recessive CLCN1 mutation presenting as thomsen disease

S. Baker, J. Tarleton, Judy Thomas, 2008, Muscle & nerve.

Evidence of founder chromosomes in fragile X syndrome

K. Friend, C. Schwartz, W. Brown, 1992, Nature Genetics.

Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region.

S. Skinner, T. Donlon, R. Simensen, 1995, American journal of medical genetics.

Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.

Nick L Hjelm, M. Hegde, R. Moxley, 2013, The Journal of molecular diagnostics : JMD.

A simple fragile X PCR assay with 7-deazaguanine-substituted DNA visualized by ethidium bromide.

L. Davidow, J. Tarleton, J. Cao, 1994, Molecular and cellular probes.

Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).

I. MacDonald, I. Ginjaar, Deepti Babu, 2009, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Detection of FMR1 trinucleotide repeat expansion mutations using Southern blot and PCR methodologies.

J. Tarleton, 2003, Methods in molecular biology.

Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.

C. Schwartz, A. Aylsworth, S. Albright, 1994, American journal of medical genetics.

Truncating CLCN1 mutations in myotonia congenita: Variable patterns of inheritance

T. Bird, S. Gospe, Randal C. Richardson, 2014, Muscle & nerve.

Natural history of cognitive and adaptive behavior in young fragile X males and females: A 6-year prospective multicenter study

J. Steyaert, J. Fryns, G. Fisch, 1997 .

Rater reliability of fragile X mutation size estimates: a multilaboratory analysis.

G. Fisch, N. Carpenter, A. Maddalena, 1996, American journal of medical genetics.