Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair
Zambrano, Regina M., Marble, Michael, Chalew, Stuart A., Lilje, Christian, Vargas, Alfonso, Lacassie, Yves
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Journal Article
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A., Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Journal Article
Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia
Murphy, Heidi, Patrick, Jessica, Báez-Irizarry, Eileen, Lacassie, Yves, Gómez, Ricardo, Vargas, Alfonso, Barkemeyer, Brian, Kanotra, Sohit, Zambrano, Regina M
Published in European journal of medical genetics (01.04.2016)
Published in European journal of medical genetics (01.04.2016)
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Journal Article
Variable developmental delays and characteristic facial features—A novel 7p22.3p22.2 microdeletion syndrome?
Yu, Andrea C., Zambrano, Regina M., Cristian, Ingrid, Price, Sue, Bernhard, Birgitta, Zucker, Marc, Venkateswaran, Sunita, McGowan‐Jordan, Jean, Armour, Christine M.
Published in American journal of medical genetics. Part A (01.06.2017)
Published in American journal of medical genetics. Part A (01.06.2017)
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Journal Article
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
Wood, Kirsten A., Zambrano, Regina M., Cheek, Bradley J., Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C., Lacassie, Yves
Published in Clinical case reports (01.04.2017)
Published in Clinical case reports (01.04.2017)
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Journal Article
Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1
Zambrano, Regina M, Wohler, Elizabeth, Annerén, Göran, Thuresson, Ann-Charlotte, Cutting, Garry R, Batista, Denise A
Published in European journal of medical genetics (01.03.2011)
Published in European journal of medical genetics (01.03.2011)
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Journal Article
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair
Zambrano, Regina M, Marble, Michael, Chalew, Stuart A, Lilje, Christian, Vargas, Alfonso, Lacassie, Yves
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
Get full text
Report
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
Wood, Kirsten A, Zambrano, Regina M, Cheek, Bradley J, Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C, Lacassie, Yves
Published in Clinical case reports (01.04.2017)
Published in Clinical case reports (01.04.2017)
Get full text
Report