D
Danilo Moretti-Ferreira
Researcher at Sao Paulo State University
Publications - 62
Citations - 1621
Danilo Moretti-Ferreira is an academic researcher from Sao Paulo State University. The author has contributed to research in topics: Stuttering & Macrocephaly. The author has an hindex of 16, co-authored 59 publications receiving 1471 citations. Previous affiliations of Danilo Moretti-Ferreira include University of São Paulo.
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Journal ArticleDOI
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Shinji Kondo,Brian C. Schutte,Rebecca J. Richardson,Bryan C. Bjork,Alexandra S. Knight,Yoriko Watanabe,Emma Howard,Renata Lúcia Leite Ferreira de Lima,Sandra Daack-Hirsch,Achim Sander,Donna M. McDonald-McGinn,Elaine H. Zackai,Edward J. Lammer,Arthur S. Aylsworth,Holly H. Ardinger,Andrew C. Lidral,Barbara R. Pober,Lina M. Moreno,Mauricio Arcos-Burgos,Consuelo Valencia,Claude Houdayer,Michel Bahuau,Danilo Moretti-Ferreira,Antonio Richieri-Costa,Michael J. Dixon,Jeffrey C. Murray +25 more
TL;DR: It is demonstrated that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia.
Journal ArticleDOI
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
Renata Lúcia Leite Ferreira de Lima,Sarah A Hoper,Michella Ghassibé,Margaret E. Cooper,Nicholas K. Rorick,Shinji Kondo,Lori Katz,Mary L. Marazita,John G. Compton,Sherri J. Bale,Ute Hehr,Michael J. Dixon,Sandra Daack-Hirsch,Odile Boute,Bénédicte Bayet,Nicole Revencu,Christine Verellen-Dumoulin,Miikka Vikkula,Antonio Richieri-Costa,Danilo Moretti-Ferreira,Jeffrey C. Murray,Brian C. Schutte +21 more
TL;DR: The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6 and suggest a two-tier approach for efficient mutation screens for interferons regulatory factors 6.
Journal ArticleDOI
Williams–Beuren syndrome in diverse populations
Paul Kruszka,Antonio R. Porras,Deise Helena de Souza,Angélica Moresco,Victoria Huckstadt,Ashleigh D. Gill,Alec P. Boyle,Tommy Hu,Yonit A. Addissie,Gary T. K. Mok,Cedrik Tekendo-Ngongang,Karen Fieggen,Eloise J. Prijoles,Pranoot Tanpaiboon,Engela Honey,HM Luk,Ivan F M Lo,Meow-Keong Thong,Premala Muthukumarasamy,Kelly L. Jones,Khadija Belhassan,Karim Ouldim,Ihssane El Bouchikhi,Laila Bouguenouch,Anju Shukla,Katta M. Girisha,Nirmala D. Sirisena,Vajira H. W. Dissanayake,C. Sampath Paththinige,Rupesh Mishra,Monisha S. Kisling,Carlos Ferreira,María Beatriz de Herreros,Ni-Chung Lee,Saumya Shekhar Jamuar,Angeline Lai,Ee Shien Tan,Jiin Ying Lim,Cham Breana Wen-Min,Neerja Gupta,Stephanie Lotz-Esquivel,Ramses Badilla-Porras,Dalia Farouk Hussen,Mona O. El Ruby,Engy A. Ashaat,Siddaramappa J. Patil,Leah Dowsett,Alison Eaton,A. Micheil Innes,Vorasuk Shotelersuk,E.V. Badoe,Ambroise Wonkam,María Gabriela Obregon,Brian H.Y. Chung,Milana Trubnykova,Jorge La Serna,Bertha Elena Gallardo Jugo,Miguel Chávez Pastor,Hugo Hernán Abarca Barriga,André Mégarbané,Beth A. Kozel,Mieke M. van Haelst,Roger E. Stevenson,Marshall L. Summar,Adebowale Adeyemo,Colleen A. Morris,Danilo Moretti-Ferreira,Marius George Linguraru,Maximilian Muenke +68 more
TL;DR: In this article, the authors used facial analysis technology to diagnose the Williams-Beuren syndrome (WBS), a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23.
Journal ArticleDOI
High Dosage Folic Acid Supplementation, Oral Cleft Recurrence and Fetal Growth
George L. Wehby,Têmis Maria Félix,Norman Goco,Antonio Richieri-Costa,Hrishikesh Chakraborty,Josiane Souza,Rui Pereira,Carla Padovani,Danilo Moretti-Ferreira,Jeffrey C. Murray +9 more
TL;DR: The results suggest that high dosage folic acid does not compromise fetal growth and is suggestive of a decrease in oral cleft recurrence compared to the historic recurrence rate.
Journal ArticleDOI
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
M. Hashim Raza,Carlos Eduardo Frigério Domingues,Ronald Webster,Eduardo Sainz,Emily Paris,Rachel M. Rahn,Joanne Gutierrez,Ho Ming Chow,Jennifer Mundorff,Chang Soo Kang,Naveeda Riaz,Muhammad Asim Raza Basra,Shaheen N. Khan,Sheikh Riazuddin,Danilo Moretti-Ferreira,Allen R. Braun,Dennis Drayna +16 more
TL;DR: It is hypothesize that rare non-synonymous coding variants in GNPTAB, GNPTG, and NAGPA may account for as much as 16% of persistent stuttering cases, and that variants in GPs are at different sites and may in general, cause less severe effects on protein function than those in ML II alpha/ beta and ML III alpha/beta/gamma.