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Author/Creator Yamamoto, Guilherme L.

2. Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals. Issue 3 (29th June 2021)

Authors:
Naslavsky, Michel S.; Scliar, Marília O.; Nunes, Kelly; Wang, Jaqueline Y. T.; Yamamoto, Guilherme L.; Guio, Heinner; Tarazona‐Santos, Eduardo; Duarte, Yeda A. O.; Passos‐Bueno, Maria Rita; Meyer, Diogo; Zatz, Mayana
Other Names:
Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 187:Issue 3(2021)
Page Start:
357
Record Type:
Journal Article
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3. Evidence-based Risk Stratification for Sport Medicine Procedures During the COVID-19 Pandemic. (October 2020)

Authors:
Hinckel, Betina B.; Baumann, Charles A.; Ejnisman, Leandro; Cavinatto, Leonardo M.; Martusiewicz, Alexander; Tanaka, Miho J.; Tompkins, Marc; Sherman, Seth L.; Chahla, Jorge A.; Frank, Rachel; Yamamoto, Guilherme L.; Bicos, James; Arendt, Liza; Fithian, Donald; Farr, Jack
Journal:
Journal of the AAOS
Issue:
Volume 4:Number 10(2020)
Page Start:
Record Type:
Journal Article
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4. Further evidence of the importance of RIT1 in Noonan syndrome. Issue 11 (13th August 2014)

Authors:
Bertola, Débora R.; Yamamoto, Guilherme L.; Almeida, Tatiana F.; Buscarilli, Michelle; Jorge, Alexander A. L.; Malaquias, Alexsandra C.; Kim, Chong A.; Takahashi, Vanessa N. V.; Passos‐Bueno, Maria Rita; Pereira, Alexandre C.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 11(2014.)
Page Start:
2952
Record Type:
Journal Article
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5. Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases. Issue 4 (19th February 2020)

Authors:
Montenegro, Marilia M.; Quaio, Caio R.; Palmeira, Patricia; Gasparini, Yanca; Rangel‐Santos, Andreia; Damasceno, Julian; Novak, Estela M.; Gimenez, Thamires M.; Yamamoto, Guilherme L.; Ronjo, Rachel S.; Novo‐Filho, Gil M.; Chehimi, Samar N.; Zanardo, Evelin A.; Dias, Alexandre T.; Nascimento, Amo...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 4(2020)
Page Start:
n/a
Record Type:
Journal Article
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6. Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil. Issue 4 (31st October 2020)

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.
Other Names:
Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 4(2020)
Page Start:
896
Record Type:
Journal Article
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7. Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder. Issue 10 (26th July 2018)

Authors:
Sánchez‐Sánchez, Sandra M.; Magdalon, Juliana; Griesi‐Oliveira, Karina; Yamamoto, Guilherme L.; Santacruz‐Perez, Carolina; Fogo, Mariana; Passos‐Bueno, Maria Rita; Sertié, Andrea L.
Journal:
Human mutation
Issue:
Volume 39:Issue 10(2018)
Page Start:
1372
Record Type:
Journal Article
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8. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. Issue 4 (22nd March 2017)

Authors:
Romanelli Tavares, Vanessa L.; Zechi‐Ceide, Roseli M.; Bertola, Debora R.; Gordon, Christopher T.; Ferreira, Simone G.; Hsia, Gabriella S. P.; Yamamoto, Guilherme L.; Ezquina, Suzana A. M.; Kokitsu‐Nakata, Nancy M.; Vendramini‐Pittoli, Siulan; Freitas, Renato S.; Souza, Josiane; Raposo‐Amaral, Ce...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 4(2017)
Page Start:
938
Record Type:
Journal Article
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9. The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry. Issue 5 (12th January 2022)

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.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 5(2022)
Page Start:
1545
Record Type:
Journal Article
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