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Author/Creator Bertola, Debora

1. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Issue 7 (12th May 2017)

Authors:
Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Adés, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae‐Joon; de Geus, Christa M.; Duba, Hans‐Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Mo...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1739
Record Type:
Journal Article
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4. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. (December 2017)

Authors:
Sobreira, Nara; Brucato, Martha; Zhang, Li; Ladd-Acosta, Christine; Ongaco, Chrissie; Romm, Jane; Doheny, Kimberly; Mingroni-Netto, Regina; Bertola, Debora; Kim, Chong; Perez, Ana; Melaragno, Maria; Valle, David; Meloni, Vera; Bjornsson, Hans
Journal:
European journal of human genetics
Issue:
Volume 25:Number 12(2017)
Page Start:
1335
Record Type:
Journal Article
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5. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype–phenotype correlation. (28th March 2015)

Authors:
Bertola, Debora; Passos‐Bueno, Maria Rita; Pereira, Alexandre; Kim, Chong; Morgan, Tim; Robertson, Stephen P.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 5(2015:May)
Page Start:
1161
Record Type:
Journal Article
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6. Schinzel–Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. (7th February 2015)

Authors:
Carvalho, Ellaine; Honjo, Rachel; Magalhães, Monize; Yamamoto, Guilherme; Rocha, Katia; Naslavsky, Michel; Zatz, Mayana; Passos‐Bueno, Maria Rita; Kim, Chong; Bertola, Debora
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 5(2015:May)
Page Start:
1039
Record Type:
Journal Article
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7. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. Issue 12 (15th October 2018)

Authors:
Paolacci, Stefano; Li, Yun; Agolini, Emanuele; Bellacchio, Emanuele; Arboleda-Bustos, Carlos E; Carrero, Dido; Bertola, Debora; Al-Gazali, Lihadh; Alders, Mariel; Altmüller, Janine; Arboleda, Gonzalo; Beleggia, Filippo; Bruselles, Alessandro; Ciolfi, Andrea; Gillessen-Kaesbach, Gabriele; Krieg, T...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 12(2018)
Page Start:
837
Record Type:
Journal Article
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