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Author/Creator Jorge, Alexander A. L.

1. Analysis of the insulin‐like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp). (12th March 2013)

Authors:
Leal, Andrea C.; Montenegro, Luciana R.; Saito, Renata F.; Ribeiro, Tamaya C.; Coutinho, Debora C.; Mendonca, Berenice B.; Arnhold, Ivo J. P.; Jorge, Alexander A. L.
Journal:
Clinical endocrinology
Issue:
Volume 78:Number 4(2013:Apr.)
Page Start:
558
Record Type:
Journal Article
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2. Back Cover, Volume 43, Issue 7. Issue 7 (8th June 2022)

Authors:
Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; van Beusekom, Ellen; Cordoba, Mara S.; Caldas Rosa, Erica C.C.; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet...
Journal:
Human mutation
Issue:
Volume 43:Issue 7(2022)
Page Start:
ii
Record Type:
Journal Article
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3. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. Issue 8 (14th May 2021)

Authors:
Villela, Darine; Mazzonetto, Patricia C.; Migliavacca, Michele P.; Perrone, Eduardo; Guida, Gustavo; Milanezi, Maria Fernanda G.; Jorge, Alexander A. L.; Ribeiro‐Bicudo, Lucilene A.; Kok, Fernando; Campagnari, Francine; de Rosso‐Giuliani, Liane; da Costa, Silvia Souza; Vianna‐Morgante, Angela M.;...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2335
Record Type:
Journal Article
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4. Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy. Issue 5 (24th February 2023)

Authors:
Harris, Sarah C.; Chong, Karen; Chitayat, David; Gilmore, Kelly L.; Jorge, Alexander A. L.; Freire, Bruna L.; Lerario, Antonio; Shannon, Patrick; Cope, Heidi; Gallentine, William B.; Le Guyader, Gwenal; Bilan, Frederic; Létard, Pascaline; Davis, Erica E.; Vora, Neeta L.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 5(2023)
Page Start:
1282
Record Type:
Journal Article
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5. 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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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. Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome. Issue 7 (10th May 2022)

Authors:
Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; van Beusekom, Ellen; Cordoba, Mara S.; Caldas Rosa, Erica C.C.; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet...
Journal:
Human mutation
Issue:
Volume 43:Issue 7(2022)
Page Start:
900
Record Type:
Journal Article
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8. Relatively high frequency of non‐synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. (12th March 2013)

Authors:
França, Marcela M.; Jorge, Alexander A. L.; Carvalho, Luciani R. S.; Costalonga, Everlayny F.; Otto, Aline P.; Correa, Fernanda A.; Mendonca, Berenice B.; Arnhold, Ivo J. P.
Journal:
Clinical endocrinology
Issue:
Volume 78:Number 4(2013:Apr.)
Page Start:
551
Record Type:
Journal Article
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9. Targeted sequencing identifies novel variants in common and rare MODY genes. Issue 12 (8th October 2019)

Authors:
de Santana, Lucas S.; Caetano, Lilian A.; Costa‐Riquetto, Aline D.; Franco, Pedro C.; Dotto, Renata P.; Reis, André F.; Weinert, Letícia S.; Silveiro, Sandra P.; Vendramini, Marcio F.; do Prado, Flaviene A.; Abrahão, Giovanna C. P.; de Almeida, Ana Gregória F. P.; Tavares, Maria da G. Rodrigues; ...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 12(2019)
Page Start:
n/a
Record Type:
Journal Article
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