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

Nature genetics, 2001-01, Vol.27 (1), p.20-21

2001

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An undifferentiated pediatrician

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.298-300

Kelly, Thaddeus E.

2009

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Triphalangeal thumbs with brachyectrodactyly: A sporadic case

American journal of medical genetics. Part A, 2008-11, Vol.146A (21), p.2835-2836

2008

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

American journal of medical genetics. Part A, 2006-07, Vol.140A (14), p.1497-1503

2006

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

Clinical pediatrics, 1998-05, Vol.37 (5), p.301-304

1998

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

Journal of medical genetics, 2000-01, Vol.37 (1), p.26-32

2000

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Progression of cardiac disease in emery‐dreifuss muscular dystrophy

Clinical cardiology (Mahwah, N.J.), 1991-05, Vol.14 (5), p.411-416

1991

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

Journal of bone and mineral research, 1999-03, Vol.14 (3), p.449-455

1999

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Constitutional UPD for chromosome llpl5 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies

American journal of medical genetics. Part A, 2006, Vol.140 (14), p.1497-1503

2006

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

Journal of medical genetics, 1998-10, Vol.35 (10), p.862-864

1998

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Cervical spine anomalies and tumors in Weaver syndrome

American journal of medical genetics, 2000-12, Vol.95 (5), p.492-495

2000

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Extension of Phenotype Associated with Structural Mutations in Type I Collagen: Siblings with Juvenile Osteoporosis have anα2(I)Gly436->Arg Substitution. † 597

Pediatric research, 1997-04, Vol.41, p.102-102

1997

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

Journal of medical genetics, 1995-06, Vol.32 (6), p.465-469

1995

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

Journal of medical genetics, 2000-01, Vol.37 (1), p.63-64

2000

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

Prenatal diagnosis, 1998-11, Vol.18 (11), p.1202-1204

1998

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Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes

Journal of medical genetics, 1973-03, Vol.10 (1), p.11-16

1973

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

The Journal of pediatrics, 1993-07, Vol.123 (1), p.93-95

1993

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Teratogenicity of anticonvulsant drugs. I: Review of the literature

American journal of medical genetics, 1984-11, Vol.19 (3), p.413-434

Kelly, Thaddeus E.

1984

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CONGENITAL FAMILIAL CARDIAC CONDUCTION DEFECTS

Circulation (New York, N.Y.), 1965-07, Vol.32 (1), p.32-34

1965

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Current issues of personnel and laboratory practices in genetic testing

Journal of medical genetics, 1995-10, Vol.32 (10), p.780-786

1995

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

Human mutation, 1992, Vol.1 (4), p.298-302

1992

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Gastrointestinal involvement in a woman with dyskeratosis congenita

Digestive diseases and sciences, 1993-01, Vol.38 (1), p.181-184

1993

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Picture of the month

American journal of diseases of children (1960), 1975-09, Vol.129 (9), p.1059

1975

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

American journal of diseases of children (1960), 1981-08, Vol.135 (8), p.703

1981

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

American journal of diseases of children (1960), 1975-03, Vol.129 (3), p.383

1975

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

An undifferentiated pediatrician

Triphalangeal thumbs with brachyectrodactyly: A sporadic case

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

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

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

Progression of cardiac disease in emery‐dreifuss muscular dystrophy

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

Constitutional UPD for chromosome llpl5 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies

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

Cervical spine anomalies and tumors in Weaver syndrome

Extension of Phenotype Associated with Structural Mutations in Type I Collagen: Siblings with Juvenile Osteoporosis have anα2(I)Gly436->Arg Substitution. † 597

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

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

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

Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes

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

Teratogenicity of anticonvulsant drugs. I: Review of the literature

CONGENITAL FAMILIAL CARDIAC CONDUCTION DEFECTS

Current issues of personnel and laboratory practices in genetic testing

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

Gastrointestinal involvement in a woman with dyskeratosis congenita

Picture of the month

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

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

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