Search Results - "Karczeski, Barbara"

Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition by Raraigh, Karen S., Pastore, Matthew T., Greene, Lisa, Karczeski, Barbara A., Fisher, Laura K., Ramsey, Bonnie W., Langfelder-Schwind, Elinor

“…Purpose of Review This manuscript reviews developments in the diagnosis and treatment of cystic fibrosis (CF) and addresses the impact on families. Recent…”
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GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype by Paznekas, William A, Karczeski, Barbara, Vermeer, Sascha, Lowry, R. Brian, Delatycki, Martin, Laurence, Faivre, Koivisto, Pasi A, Van Maldergem, Lionel, Boyadjiev, Simeon A, Bodurtha, Joann N, Wang Jabs, Ethylin

“…The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfamilial phenotypic variability…”
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X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism by Wang, Ying, Busin, Rachel, Reeves, Catherine, Bezman, Lena, Raymond, Gerald, Toomer, Cicely J., Watkins, Paul A., Snowden, Ann, Moser, Ann, Naidu, Sakkubai, Bibat, Genila, Hewson, Stacy, Tam, Karen, Clarke, Joe T.R., Charnas, Lawrence, Stetten, Gail, Karczeski, Barbara, Cutting, Garry, Steinberg, Steven

“…X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting adrenal glands, testes and myelin stability that is caused by mutations…”
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Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors by Langfelder-Schwind, Elinor, Karczeski, Barbara, Strecker, Michelle N., Redman, Joy, Sugarman, Elaine A., Zaleski, Christina, Brown, Trisha, Keiles, Steven, Powers, Amy, Ghate, Sumheda, Darrah, Rebecca

“…Purpose To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information…”
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Phenotypic and genetic characterization of patients with features of “nonclassic” forms of cystic fibrosis by Groman, Joshua D., Karczeski, Barbara, Sheridan, Molly, Robinson, Terry E., Fallin, M. Daniele, Cutting, Garry R.

“…To determine which features of incomplete or “nonclassic” forms of cystic fibrosis (CF) are associated with deleterious CF transmembrane conductance regulator…”
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Chapter 14 - Molecular Testing for Cystic Fibrosis and CFTR-Related Conditions by Karczeski, Barbara A., Cutting, Garry R.

“…This chapter discusses the molecular testing for cystic fibrosis and conductance regulator (CFTR)–related conditions. Classic CF is defined as a triad of…”
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