Targeted massively parallel sequencing for congenital generalized lipodystrophy

Authors: Costa-Riquetto, Aline D., Santana, Lucas S., Caetano, Lílian A., Lerário, Antônio M., Correia-Deur, Joya E. M., Bertola, Débora R., Kim, Chong A., Nery, Márcia, Jorge, Alexander A. L., Teles, Milena G.

Source: Archives of Endocrinology and Metabolism. October 2020 64(5)

Subject Terms: Congenital generalized lipodystrophy, Berardinelli-Seip syndrome, massively parallel sequencing, deep sequencing

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Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

Authors: Bonamichi, Beatriz D. S. F., Santiago, Stella L. M., Bertola, Débora R., Kim, Chong A., Alonso, Nivaldo, Mendonca, Berenice B., Bachega, Tania A. S. S., Gomes, Larissa G.

Source: Archives of Endocrinology and Metabolism. October 2016 60(5)

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Hematological findings in Noonan syndrome

Authors: Bertola, Débora R., Carneiro, Jorge David A., D'Amico, Élbio Antônio, Kim, Chong A., Albano, Lilian Maria José, Sugayama, Sofia M.M., Gonzalez, Claudette H.

Source: Revista do Hospital das Clínicas. January 2003 58(1)

Subject Terms: Noonan syndrome, Hematological findings, Coagulation-factor XI deficiency

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Clinical and laboratorial study of 19 cases of mucopolysaccharidoses

Authors: Albano, Lilian M. J., Sugayama, Sofia S. M. M., Bertola, Débora R., Andrade, Carlos E. F., Utagawa, Cláudia Y., Puppi, Flávia, Nader, Helena B., Toma, Leny, Coelho, Janice, Leistner, Sandra, Burin, Maira, Giugliani, Roberto, Chong, A. Kim

Source: Revista do Hospital das Clínicas. December 2000 55(6)

Subject Terms: Mucopolysaccharidoses, Glycosaminoglycans, Lysosomal storage diseases

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Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis

Authors: Albano, Lilian Maria José, Sakae, Paula Priscila Ohara, Mataloun, Marta Maria Galli Bozzo, Leone, Clea Rodrigues, Bertola, Débora R., Kim, Chong Ae

Source: Revista do Hospital das Clínicas. January 2004 59(2)

Subject Terms: Schinzel-Giedion syndrome, Hydronephrosis, Midface hypoplasia

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Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87812004000200008

Nosology of genetic skeletal disorders: 2023 revision

Authors: Unger, Sheila, Ferreira, Carlos R., Mortier, Geert R., Ali, Houda, Bertola, Débora R., Calder, Alistair, Cohn, Daniel H., Cormier‐Daire, Valerie, Girisha, Katta M., Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P., Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V. Reid, Warman, Matthew L., Superti‐Furga, Andrea

Source: American journal of medical genetics.Part A. 191(5):1164-1209

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194505150.0x000001&indx=1&recIds=ETOCvdc_100194505150.0x000001

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Authors: Smallwood, Kelly, Watt, Kristin E.N., Ide, Satoru, Baltrunaite, Kristina, Brunswick, Chad, Inskeep, Katherine, Capannari, Corrine, Adam, Margaret P., Begtrup, Amber, Bertola, Debora R., Demmer, Laurie, Demo, Erin, Devinsky, Orrin, Gallagher, Emily R., Guillen Sacoto, Maria J., Jech, Robert, Keren, Boris, Kussmann, Jennifer, Ladda, Roger, Lansdon, Lisa A., Lunke, Sebastian, Mardy, Anne, McWalters, Kirsty, Person, Richard, Raiti, Laura, Saitoh, Noriko, Saunders, Carol J., Schnur, Rhonda, Skorvanek, Matej, Sell, Susan L., Slavotinek, Anne, Sullivan, Bonnie R., Stark, Zornitza, Symonds, Joseph D., Wenger, Tara, Weber, Sacha, Whalen, Sandra, White, Susan M., Winkelmann, Juliane, Zech, Michael, Zeidler, Shimriet, Maeshima, Kazuhiro, Stottmann, Rolf W., Trainor, Paul A., Weaver, K. Nicole

Source: In The American Journal of Human Genetics 4 May 2023 110(5):809-825

Omodysplasia: the first reported Brazilian case

Authors: Albano, Lílian Maria, Oliveira, Luiz A. N., Bertola, Débora R., Mazzu, Juliana F., Kim, Chong Ae

Source: Clinics. January 2007 62(4)

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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

Authors: Duan, Ruizhi, Hijazi, Hadia, Gulec, Elif Yilmaz, Eker, Hatice Koçak, Costa, Silvia R., Sahin, Yavuz, Ocak, Zeynep, Isikay, Sedat, Ozalp, Ozge, Bozdogan, Sevcan, Aslan, Huseyin, Elcioglu, Nursel, Bertola, Débora R., Gezdirici, Alper, Du, Haowei, Fatih, Jawid M., Grochowski, Christopher M., Akay, Gulsen, Jhangiani, Shalini N., Karaca, Ender, Gu, Shen, Coban-Akdemir, Zeynep, Posey, Jennifer E., Bayram, Yavuz, Sutton, V. Reid, Carvalho, Claudia M.B., Pehlivan, Davut, Gibbs, Richard A., Lupski, James R.

Source: In Human Genetics and Genomics Advances 13 October 2022 3(4)

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

Authors: Lima, Ariadne R., Ferreira, Barbara M., Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J., Dawood, Moez, Lins, Tulio C., Chiabai, Marcela A., Beusekom, Ellen, Cordoba, Mara S., Caldas Rosa, Erica C.C., Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M., Jorge, Alexander A. L., Kim, Chong A., Honjo, Rachel, Bertola, Débora R., Dandalo‐Girardi, Raissa M., Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C., Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N., Muzny, Donna M., Regattieri, Neysa A.P., Pogue, Robert, Pereira, Rinaldo W., Otto, Paulo A., Gibbs, Richard A., Ali, Bassam R., Bokhoven, Hans, Brunner, Han G., Sutton, V. Reid, Lupski, James R., Vianna‐Morgante, Angela M., Carvalho, Claudia M. B., Mazzeu, Juliana F.

Source: Human mutation. 43(7):900-918

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153791776.0x000001&indx=1&recIds=ETOCvdc_100153791776.0x000001

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry

Authors: Ali, Taccyanna M., Linnenkamp, Bianca D. W., Yamamoto, Guilherme L., Honjo, Rachel S., Cabral de Menezes Filho, Hamilton, Kim, Chong Ae, Bertola, Débora R.

Source: American journal of medical genetics.Part A. 188(5):1545-1549

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146658553.0x000001&indx=1&recIds=ETOCvdc_100146658553.0x000001

Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome

Authors: Seyama, Rie, Uchiyama, Yuri, Ceroni, José Ricard Magliocco, Kim, Veronica Eun Hue, Furquim, Isabel, Honjo, Rachel Sayuri, Castro, Matheus Augusto Araujo, Pires, Lucas Vieira Lacerda, Aoi, Hiromi, Iwama, Kazuhiro, Hamanaka, Kohei, Fujita, Atsushi, Tsuchida, Naomi, Koshimizu, Eriko, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Makino, Shintaro, Itakura, Atsuo, Bertola, Débora R., Kim, Chong Ae, Matsumoto, Naomichi

Source: In Genomics September 2022 114(5)

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Authors: Lin, Yuh-Charn, Niceta, Marcello, Muto, Valentina, Vona, Barbara, Pagnamenta, Alistair T., Maroofian, Reza, Beetz, Christian, van Duyvenvoorde, Hermine, Dentici, Maria Lisa, Lauffer, Peter, Vallian, Sadeq, Ciolfi, Andrea, Pizzi, Simone, Bauer, Peter, Grüning, Nana-Maria, Bellacchio, Emanuele, Del Fattore, Andrea, Petrini, Stefania, Shaheen, Ranad, Tiosano, Dov, Halloun, Rana, Pode-Shakked, Ben, Albayrak, Hatice Mutlu, Işık, Emregül, Wit, Jan M., Dittrich, Marcus, Freire, Bruna L., Bertola, Debora R., Jorge, Alexander A.L., Barel, Ortal, Sabir, Ataf H., Al Tenaiji, Amal M.J., Taji, Sulaima M., Al-Sannaa, Nouriya, Al-Abdulwahed, Hind, Digilio, Maria Cristina, Irving, Melita, Anikster, Yair, Bhavani, Gandham S.L., Girisha, Katta M., Haaf, Thomas, Taylor, Jenny C., Dallapiccola, Bruno, Alkuraya, Fowzan S., Yang, Ruey-Bing, Tartaglia, Marco

Source: In The American Journal of Human Genetics 7 January 2021 108(1):115-133

Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil

Authors: Bertola, Débora R., Castro, Matheus A. A., Yamamoto, Guilherme L., Honjo, Rachel S., Ceroni, José Ricardo, Buscarilli, Michele M., Freitas, Amanda B., Malaquias, Alexsandra C., Pereira, Alexandre C., Jorge, Alexander A. L., Passos‐Bueno, Maria Rita, Kim, Chong A.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 184(4):896-911

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100112202285.0x000001&indx=1&recIds=ETOCvdc_100112202285.0x000001

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Authors: Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.

Source: In The American Journal of Human Genetics 4 January 2018 102(1):69-87

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with 'corner fractures'

Authors: Costantini, Alice, Valta, Helena, Baratang, Nissan Vida, Yap, Patrick, Bertola, Débora R., Yamamoto, Guilherme L., Kim, Chong A., Chen, Jiani, Wierenga, Klaas J., Fanning, Elizabeth A., Escobar, Luis, McWalter, Kirsty, McLaughlin, Heather, Willaert, Rebecca, Begtrup, Amber, Alm, Jessica J., Reinhardt, Dieter P., Mäkitie, Outi, Campeau, Philippe M.

Source: Bone. 121:163-171

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Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)

Authors: Moreira, Eloisa S., Silva, Isabela M.W., Lourenço, Naila, Moreira, Danielle P., Ribeiro, Cintia M., Martins, Ana Luiza B., Griesi-Oliveira, Karina, Lazar, Monize, Costa, Silvia S., Naslavsky, Michel S., Rocha, Kátia M., Aguena, Meire, Fett-Conte, Agnes C., Zatz, Mayana, Rosenberg, Carla, Zachi, Elaine C., Bertola, Débora R., Vadasz, Estevão, Passos-Bueno, Maria Rita

Source: In Research in Autism Spectrum Disorders March 2016 23:145-151

The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion

Authors: Da Cás, Eduardo, Pires, Lucas V.L., Linnenkamp, Bianca D.W., Allegro, Marcella C., Honjo, Rachel S., Bertola, Débora R., Aoi, Hiromi, Matsumoto, Naomichi, Kim, Chong Ae

Source: In European Journal of Medical Genetics October 2024 71

Back Cover, Volume 43, Issue 7

Authors: Lima, Ariadne R., Ferreira, Barbara M., Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J., Dawood, Moez, Lins, Tulio C., Chiabai, Marcela A., Beusekom, Ellen, Cordoba, Mara S., Caldas Rosa, Erica C.C., Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M., Jorge, Alexander A. L., Kim, Chong A., Honjo, Rachel, Bertola, Débora R., Dandalo‐Girardi, Raissa M., Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C., Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N., Muzny, Donna M., Regattieri, Neysa A.P., Pogue, Robert, Pereira, Rinaldo W., Otto, Paulo A., Gibbs, Richard A., Ali, Bassam R., Bokhoven, Hans, Brunner, Han G., Sutton, V. Reid, Lupski, James R., Vianna‐Morgante, Angela M., Carvalho, Claudia M. B., Mazzeu, Juliana F.

Source: Human mutation. 43(7):ii-ii

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153791913.0x000001&indx=1&recIds=ETOCvdc_100153791913.0x000001

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems

Authors: D'Angelo, Carla S., Da Paz, José A., Kim, Chong A., Bertola, Débora R., Castro, Claudia I.E., Varela, Monica C., Koiffmann, Célia P.

Source: In European Journal of Medical Genetics 2006 49(6):451-460