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3 results on '"Lees, Melissa M"'

1. TBC1D24genotype–phenotype correlation

Author

Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J., Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J. Lloyd, Lesca, Gaetan, Mancardi, Maria M., Poulat, Anne L., Repetto, Gabriela M., Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E., Bosch, Friedrich, Brockmann, Knut, Cross, J. Helen, Doummar, Diane, Félix, Temis M., Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M., Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T., Peluso, Silvio, Mey, Antje, Rice, Gregory M., Rosenfeld, Jill A., Taylor, Jenny C., Troester, Matthew M., Stanley, Christine M., Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R., Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F., Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B., Oliver, Karen L., Berkovic, Samuel F., Scheffer, Ingrid E., de Falco, Fabrizio A., Oliver, Peter L., Striano, Pasquale, Zara, Federico, Campeau, Phillipe M., and Sisodiya, S.M.

Published
2016
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2. Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.

Author

Allotey, Jacqueline, Lacaille, Florence, Lees, Melissa M., Strautnieks, Sandra, Thompson, Richard J., and Davenport, Mark

Subjects
BILIARY atresia, GENETIC disorders in children, CHROMOSOME abnormalities, ANEUPLOIDY, TRISOMY, MEDICAL genetics
Abstract

Abstract: Biliary atresia is a disease of unknown etiology but not usually thought to have a significant genetic predisposition. We report 5 infants with various forms of chromosome 22 aneuploidy as follows: 2 infants who have classical cat-eye syndrome, 2 who have partial duplication of chromosome 22 (supernumerary der(22) syndrome), and 1 who is mosaic for trisomy 22. All of these infants had significant congenital bile duct anomalies (specifically biliary atresia, n = 4)—that was the most important component of their clinical presentation. We consider whether this has possible implications about the genetic contribution to the etiology of biliary atresia. [Copyright &y& Elsevier]

Published
2008
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3. Two siblings with an unusual nasal malformation: Further instances of craniorhiny?How to cite this article: Lees MM, Kangesu L, Hall P, Hennekam RCM. 2007. Two siblings with an unusual nasal malformation: Further instances of craniorhiny? Am J Med Genet Part A 143A:3290–3294.Dedicated to M. Michael Cohen Jr. for his friendship and sharing his knowledge about “noses nobody knows.”

Author

Lees, Melissa M., Kangesu, Loshan, Hall, Per, and Hennekam, Raoul C.M.

Abstract

We report a brother and sister born to consanguineous parents. The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft‐tissue swellings of the philtrum. One sibling also has a midline cleft lip and the other has narrowing of the posterior choanae. We suggest that they have craniorhiny, despite the absence of an abnormal skull shape. The differential diagnosis is discussed. © 2007 Wiley‐Liss, Inc.

Published
2007
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