The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 von Ochs, Hans D, Bennett, Craig L, Christie, Jacinda, Ramsdell, Fred, Brunkow, Mary E, Ferguson, Polly J, Whitesell, Luke, Kelly, Thaddeus E, Saulsbury, Frank T, Chance, Phillip F

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An undifferentiated pediatrician von Kelly, Thaddeus E.

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Triphalangeal thumbs with brachyectrodactyly: A sporadic case von Brown, Alaina M., Romness, Mark, Dong, Danielle A., Kelly, Thaddeus E.

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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 von Shuman, Cheryl, Smith, Adam C., Steele, Leslie, Ray, Peter N., Clericuzio, Carol, Zackai, Elaine, Parisi, Melissa A., Meadows, Anna T., Kelly, Thaddeus, Tichauer, David, Squire, Jeremy A., Sadowski, Paul, Weksberg, Rosanna

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Discordant Puberty in Monozygotic Twin Sisters with Neurofibromatosis Type 1 (NFl) von Kelly, Thaddeus E., Sproul, George T., Huerta, Milagros G., Rogol, Alan D.

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Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? von Reardon, William, Smith, Anne, Honour, John W, Hindmarsh, Peter, Das, Debipriya, Rumsby, Gill, Nelson, Isabelle, Malcolm, Sue, Adès, Lesley, Sillence, David, Kumar, Dhavendra, DeLozier-Blanchet, Celia, McKee, Shane, Kelly, Thaddeus, McKeehan, Wallace L, Baraitser, Michael, Winter, Robin M

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Progression of cardiac disease in emery‐dreifuss muscular dystrophy von Bialer, Martin G., Mcdaniel, Nancy L., Kelly, Thaddeus E.

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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 von Dawson, Paul A., Kelly, Thaddeus E., Marini, Joan C.

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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 von SHUMAN, Cheryl, SMITH, Adam C, SQUIRE, Jeremy A, SADOWSKI, Paul, WEKSBERG, Rosanna, STEELE, Leslie, RAY, Peter N, CLERICUZIO, Carol, ZACKAI, Elaine, PARISI, Melissa A, MEADOWS, Anna T, KELLY, Thaddeus, TICHAUER, David

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Discordant phenotypes and 45,X/46,X,idic(Y) von Kelly, T E, Franko, J B, Rogol, A, Golden, W L

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Cervical spine anomalies and tumors in Weaver syndrome von Kelly, Thaddeus E., Alford, Bennett A., Abel, Mark

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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 von Dawson, Paul A., Kelly, Thaddeus E., Marini, Joan C.

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Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases von Shashi, V, Zunich, J, Kelly, T E, Fryburg, J S

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Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43 von KELLY, THADDEUS E, BLANTON, SUSAN, SAIF, RAMLA, SANJAD, SAMI A, SAKATI, NADIA A

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Confined placental mosaicism for trisomy 8 and intra-uterine growth retardation von Saks, Emily, McCoy, M. Cathleen, Damron, Joseph, Kelly, Thaddeus E.

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Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes von McKusick, Victor A., Kelly, Thaddeus E., Dorst, John P.

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Multiple areas of intestinal atresia associated with immunodeficiency and posttransfusion graft-versus-host disease von Walker, M. Whit, Lovell, Mark A., Kelly, Thaddeus E., Golden, Wendy, Saulsbury, Frank T.

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Teratogenicity of anticonvulsant drugs. I: Review of the literature von Kelly, Thaddeus E.

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CONGENITAL FAMILIAL CARDIAC CONDUCTION DEFECTS von GAZES, P C, CULLER, R M, TABER, E, KELLY, T E

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Current issues of personnel and laboratory practices in genetic testing von Mark, Hon Fong Louie, Kelly, Thaddeus, Watson, Michael S, Hoeltge, Gerald, Miller, Wayne A, Beauregard, Laurent

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