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Your search keyword '"FitzPatrick, David R."' showing total 5 results
Start Over Author "FitzPatrick, David R." Journal european journal of human genetics
5 results on '"FitzPatrick, David R."'

1. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Author

Low, Karen J, primary, Ansari, Morad, additional, Abou Jamra, Rami, additional, Clarke, Angus, additional, El Chehadeh, Salima, additional, FitzPatrick, David R, additional, Greenslade, Mark, additional, Henderson, Alex, additional, Hurst, Jane, additional, Keller, Kory, additional, Kuentz, Paul, additional, Prescott, Trine, additional, Roessler, Franziska, additional, Selmer, Kaja K, additional, Schneider, Michael C, additional, Stewart, Fiona, additional, Tatton-Brown, Katrina, additional, Thevenon, Julien, additional, Vigeland, Magnus D, additional, Vogt, Julie, additional, Willems, Marjolaine, additional, Zonana, Jonathan, additional, Study, D D D, additional, and Smithson, Sarah F, additional

Published
2017
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2. Clinical utility gene card for: Cornelia de Lange syndrome

Author

Ramos, Feliciano J, primary, Puisac, Beatriz, additional, Baquero-Montoya, Carolina, additional, Gil-Rodríguez, Ma Concepción, additional, Bueno, Inés, additional, Deardorff, Matthew A, additional, Hennekam, Raoul C, additional, Kaiser, Frank J, additional, Krantz, Ian D, additional, Musio, Antonio, additional, Selicorni, Angelo, additional, FitzPatrick, David R, additional, and Pié, Juan, additional

Published
2014
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3. The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

Author

Lynch, Sally Ann, primary, Foulds, Nicola, additional, Thuresson, Ann-Charlotte, additional, Collins, Amanda L, additional, Annerén, Göran, additional, Hedberg, Bernt-Oves, additional, Delaney, Carol A, additional, Iremonger, James, additional, Murray, Caroline M, additional, Crolla, John A, additional, Costigan, Colm, additional, Lam, Wayne, additional, Fitzpatrick, David R, additional, Regan, Regina, additional, Ennis, Sean, additional, and Sharkey, Freddie, additional

Published
2011
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5. Clinical utility gene card for: Cornelia de Lange syndrome.

Author

Ramos, Feliciano J, Puisac, Beatriz, Baquero-Montoya, Carolina, Gil-Rodríguez, Ma Concepción, Bueno, Inés, Deardorff, Matthew A, Hennekam, Raoul C, Kaiser, Frank J, Krantz, Ian D, Musio, Antonio, Selicorni, Angelo, FitzPatrick, David R, and Pié, Juan

Subjects
DE Lange's syndrome, MUSCLE dysmorphia, INTELLECTUAL disabilities, MUSCLE diseases, MUTATION-selection balance
Abstract

The article presents a study about the Cornelia de Lange syndrome (CdLS) caused by the mutations in Nipped-B-like protein (NIPBL). It states that CdLS is characterized by facial dysmorphism, intellectual disability and retardation. It also notes that the patients with CdLS have an identifiable mutation in the NIPBL gene with somatic mosaicism.

Published
2015
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