T. Kelly

发表

Teratogenicity of anticonvulsant drugs. II: A prospective study.

F. Dreifuss, J. Miller, T. Kelly, 1984, American journal of medical genetics.

Congenital Familial Cardiac Conduction Defects

P. Gazes, T. Kelly, R. M. Culler, 1965, Circulation.

Extension of Phenotype Associated with Structural Mutations in Type I Collagen: Siblings with Juvenile Osteoporosis Have an α2(I)Gly436 → Arg Substitution

P. Dawson, J. Marini, T. Kelly, 1999 .

Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study.

F. D. Nidiffer, T. Kelly, 2008, Journal of mental deficiency research.

Progression of cardiac disease in emery‐dreifuss muscular dystrophy

M. Bialer, N. McDaniel, T. Kelly, 1991, Clinical cardiology.

A possible exception to the critical region hypothesis.

H. Wyandt, V. Barnabei, T. Kelly, 1981, American journal of human genetics.

Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations.

James G. Chandler, J. Barber, J. F. Reynolds, 1983, Pediatrics.

Discordant Puberty in Monozygotic Twin Sisters with Neurofibromatosis Type 1 (NFl)

A. Rogol, M. Huerta, T. Kelly, 1998, Clinical pediatrics.

Hereditary motor‐sensory neuropathy (HMSN)

D. Parker, L. Phillips, T. Kelly, 1985, Neurology.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

H. Ochs, P. Ferguson, F. Ramsdell, 2001, Nature Genetics.

Abnormality of cartilage collagen in a patient with unclassified chondrodystrophy

M. Sussman, G. Balian, K. Rosenbaum, 1984, Journal of orthopaedic research : official publication of the Orthopaedic Research Society.

Hypercoagulability in a patient with Marfan syndrome.

G. Stouffer, J. Humphries, C. E. Rose, 1991, Journal of medical genetics.

Teratogenicity of anticonvulsant drugs. III: Radiographic hand analysis of children exposed in utero to diphenylhydantoin.

T. Kelly, Thaddeus E. Kelly, 1984, American journal of medical genetics.

Ganglioside GM2 N‐acetyl‐ß‐D‐gafactosaminidase and asialo GM2 (GA2) N‐acetyl‐ß‐D‐galactosaminidase; studies in human skin fibroblasts

J. O'brien, A. Norden, T. Kelly, 1977 .

Ganglioside GM2 N-acetyl-beta-D-galactosaminidase and asialo GM2 (GA2) N-acetyl-beta-D-galactosaminidase; studies in human skin fibroblasts.

A. Miller, J. O'brien, T. Kelly, 1977, Clinical genetics.

Segregation within a family of two mutant alleles for hexosaminidase A

J. O'brien, L. Reynolds, T. Kelly, 1976, Clinical genetics.

Mucolipidosis III: clinical and laboratory findings.

V. McKusick, G. Thomas, T. Kelly, 1975, Birth defects original article series.

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases.

J. Opitz, J. Carey, S. Gollin, 1987, American journal of medical genetics.

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies

E. Zackai, R. Weksberg, J. Squire, 2006, American journal of medical genetics. Part A.

Proximal focal femoral deficiency (familial).

T. Kelly, 1974, Birth defects original article series.

Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes

V. McKusick, J. Dorst, T. Kelly, 1973, Journal of medical genetics.

Dyskeratosis congenita: two examples of this multisystem disorder.

R. Womer, H. Sabio, T. Kelly, 1983, Pediatrics.

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

D. Sillence, W. Reardon, P. Hindmarsh, 2000, Journal of medical genetics.

Gastrointestinal involvement in a woman with dyskeratosis congenita

K. Brown, T. Kelly, Brent M. Myers, 2005, Digestive Diseases and Sciences.

Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.

V. Shashi, J. S. Fryburg, T. Kelly, 1995, Journal of medical genetics.

Globoid cell leucodystrophy.

T. Kelly, 1973, Archives of disease in childhood.

A 14/14 marker chromosome lymphocyte clone in ataxia telangiectasia.

M. Bender, J. Rary, T. Kelly, 1975, The Journal of heredity.

Discordant phenotypes and 45,X/46,X,idic(Y).

A. Rogol, J. Franko, W. Golden, 1998, Journal of medical genetics.

Incontinentia pigmenti: a chromosomal breakage syndrome.

J. Rary, T. Kelly, L. Young, 1976, The Journal of heredity.

An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema.

T. Kelly, J. Gillenwater, E. Schmitt, 1982, American journal of medical genetics.

Prenatal diagnosis of Pena-Shokeir syndrome type 1.

T. Kelly, G. Harbert, W. Davis, 1985, American journal of medical genetics.

Apparent Ruvalcaba syndrome with genitourinary abnormalities.

M. Bialer, W. Wilson, T. Kelly, 1989, American journal of medical genetics.

Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch

G. Thomas, S. Hayflick, R. Gravel, 1992, Human mutation.

Tay-Sachs disease: high gene frequency in a non-Jewish population.

V. McKusick, G. Chase, M. Kaback, 1975, American journal of human genetics.

Human chromosome 2 rod/ring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange.

H. Wyandt, A. Lamb, W. Wilson, 1982, Cytogenetics and cell genetics.

Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease.

T. Kelly, G. Graetz, 1977, American journal of medical genetics.

The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks.

J. Opitz, M. Edgerton, P. Janků, 1980, American journal of medical genetics.

Craniofrontonasal dysplasia in a three-generation kindred.

M. Edgerton, J. F. Reynolds, T. Kelly, 1982, Journal of craniofacial genetics and developmental biology.

The Robinow syndrome: an isolated case with a detailed study of the phenotype.

L. Plotnick, S. Temtamy, T. Kelly, 1975, American journal of diseases of children.

Early recognition of the Coffin-Lowry syndrome

J. Opitz, W. Wilson, T. Kelly, 1981 .

Triphalangeal thumbs with brachyectrodactyly: A sporadic case

A. M. Brown, M. Romness, T. Kelly, 2008, American journal of medical genetics. Part A.

De novo 21q interstitial deletion in a retarded boy with ulno-fibular dysostosis.

H. Wyandt, J. F. Reynolds, T. Kelly, 1985, American journal of medical genetics.

Mosaic tetraploidy in a two‐year‐old female

J. Rary, T. Kelly, 1974, Clinical genetics.

X;Y translocation in a female with streak gonads, H-Y- phenotype, and some features of Turner's syndrome.

S. Wachtel, H. Wyandt, V. Barnabei, 1985, Cytogenetics and cell genetics.

Multiple areas of intestinal atresia associated with immunodeficiency and posttransfusion graft-versus-host disease.

M. Lovell, F. Saulsbury, W. Golden, 1993, The Journal of pediatrics.

Survival of fetuses with 45,X: an instructive case and an hypothesis.

J. Ferguson, W. Golden, T. Kelly, 1992, American journal of medical genetics.

Cervical spine anomalies and tumors in Weaver syndrome.

T. Kelly, M. Abel, B. Alford, 2000, American journal of medical genetics.

Distal 15q trisomy: phenotypic comparison of nine cases in an extended family.

H. Wyandt, M. Robinow, T. Kelly, 1984, American journal of human genetics.

Meinhard Robinow: an appreciation.

J. Opitz, S. Garn, T. Kelly, 1995, American journal of medical genetics.

The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome.

T. Kelly, H. H. Wells, K. Tuck, 1982, American journal of medical genetics.

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

K. Fischbeck, M. Lensch, P. Chance, 1995, Neurology.

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

U. Francke, S. Blanton, P. Ferguson, 2000, American journal of medical genetics.

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.

T. Pihlajaniemi, D. Prockop, J. Myers, 1983, The Journal of biological chemistry.

Dyskeratosis congenita: Radiologic features

C. Stelling, T. Kelly, Ph.D. T. E. Kelly M.D., 2005, Pediatric Radiology.

Spinal muscular atrophy variant with congenital fractures.

T. Prior, M. Ferré, P. Allinson, 1999, American journal of medical genetics.

Teratogenicity of anticonvulsant drugs. I: Review of the literature.

T. Kelly, 1984, American journal of medical genetics.

Confined placental mosaicism for trisomy 8 and intra‐uterine growth retardation

T. Kelly, M. McCoy, Emily Saks, 1998, Prenatal diagnosis.

Chondrodysplasia punctata stemming from maternal lupus erythematosus.

T. Kelly, B. Alford, K. Greer, 1999, American journal of medical genetics.

Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.

S. Blanton, V. Shashi, P. Allinson, 1996, American journal of human genetics.

Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.

W. Sly, V. McKusick, M. Bull, 1975, The Johns Hopkins medical journal.

Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells

G. Thomas, D. Siggers, T. Kelly, 1973, Clinical genetics.

SCREENING FOR MUCOLIPIDOSIS

G. Thomas, T. Kelly, H.Westgarth Taylor, 1973 .

Myelopathy associated with Maroteaux-Lamy syndrome.

H. Bacchus, T. Kelly, D. I. Peterson, 1975, Archives of neurology.

The genetics of the human growth hormone axis and associated dwarfing disorders.

A. Al-Ashwal, N. Attia, N. Sakati, 1996, Annals of Saudi medicine.

The mucopolysaccharidoses and mucolipidoses.

T. Kelly, 1976, Clinical orthopaedics and related research.

Leucocyte values of alpha-L-iduronidase activity in mucopolysaccharidosis I.

T. Kelly, H. A. Taylor, 1976, Journal of medical genetics.

Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype.

L. Bartoshesky, M. Feingold, D. J. Harris, 1981, American journal of diseases of children.

Trisomy 9p with an isochromosome of 9p

Greg Smith, T. Kelly, Alice McCaa, 1978, Human Genetics.

Trisomy 4p in four relatives: variability and lack of distinctive features in phenotypic expression

J. F. Reynolds, T. Kelly, Mary Ann Shires, 1983, Clinical genetics.

Brief clinical report: early recognition of the Coffin-Lowry syndrome.

W. Wilson, T. Kelly, 1981, American journal of medical genetics.

Partial trisomy 4q resulting from a familial 4/3 translocation.

R. Haslam, G. Thomas, T. Kelly, 1979, Southern medical journal.

Secondary amenorrhoea and 47,XX,i(Xq) karyotype.

H. Wyandt, J. Wilks, T. Kelly, 1986, Journal of medical genetics.

Interstitial 3p deletion in a child due to paternal paracentric inserted inversion.

H. Wyandt, T. Kelly, R. Kasprzak, 1980, American journal of human genetics.

X;Y translocation in a female with streak gonads, H-Y– phenotype, and some features of Turner’s syndrome

S. Wachtel, H. Wyandt, V. Barnabei, 1984 .

Clinical genetics and genetic counseling

T. Kelly, 1980 .

Teratogenicity of anticonvulsant drugs. IV: The association of clefting and epilepsy.

T. Kelly, P. Edwards, M. Rein, 1984, American journal of medical genetics.

Chondrodysplasia punctata, humero-metacarpal type: a second case.

J. S. Fryburg, T. Kelly, 1996, American journal of medical genetics.

Autosomal recessive congenital cerebellar hypoplasia

A. Wichman, L. Frank, T. Kelly, 1985, Clinical genetics.

Dandy‐Walker syndrome diagnosed in utero by ultrasonography

T. Kelly, G. Newman, James Q. Miller, 1982, Neurology.

Synthesis of a Shortened Pro-a2(1) Chain and Decreased Synthesis of Pro-a2(1) Chains in a Proband with Osteogenesis Imperfects"

T. Pihlajaniemi, J. Myers, W. Wet, 2001 .

Muscle enzymes and isoenzymes in Emery-Dreifuss muscular dystrophy.

D. Bruns, M. Bialer, T. Kelly, 1990, Clinical chemistry.

Muscle Enzymesand Isoenzymesin Emery-Dreifuss MuscularDystrophy

D. Bruns, T. Kelly, 1990 .

Acrofacial dysostosis with growth and mental retardation in three males, one with simultaneous Hermansky-Pudlak syndrome.

R. J. Cooke, T. Kelly, R. Kester, 1977, Birth defects original article series.

Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformations.

H. Wyandt, M. Shires, W. Wilson, 1983, American journal of medical genetics.

X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability.

T. Kelly, L. A. Niewiadomski, 1996, American journal of medical genetics.

Clinical genetics on the road: be Oslerian, young man.

T. Kelly, 1983, American journal of medical genetics.

Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation.

J. Wyatt, T. Kelly, L. Kirson, 1993, American journal of medical genetics.

Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43

S. Blanton, S. Sanjad, N. Sakati, 2000, Journal of medical genetics.

Gonadal dysgenesis with 45,XO/46,XX mosaicism demonstrated only in a streak gonad.

R. Blizzard, A. Johanson, D. Goldstein, 1977, The Journal of pediatrics.

Uncultured blood smears hybridized with alpha satellite probes to diagnose 45,X in spontaneously aborted fetuses.

W. Golden, T. Kelly, C. von Kap‐Herr, 1992, American journal of medical genetics.

Expansion of a 27 CAG repeat allele into a symptomatic huntington disease-producing allele.

R. Mcglennen, P. Allinson, T. Kelly, 1999, American journal of medical genetics.

Cytogenetic study of a 5-14 translocation in man.

R. Tice, S. M. Blair, D. Borgaonkar, 1973, The Journal of heredity.

Non-Jewish Population

V. McKusick, G. Chase, M. Kaback, 2006 .

An undifferentiated pediatrician

T. Kelly, 2009, American journal of medical genetics. Part A.

The Rieger syndrome: An autosomal dominant disorder with ocular, dental and systemic abnormalities

H. Cross, R. Jorgenson, L. Levin, 1979 .

Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes

V. McKusick, J. Dorst, T. Kelly, 1973, Journal of medical genetics.