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Characterization of Bacterial and Fungal Microbiome in Children with Hirschsprung Disease with and without a History of Enterocolitis: A Multicenter Study
Characterization of Bacterial and Fungal Microbiome in Children with Hirschsprung Disease with and without a History of Enterocolitis: A Multicenter Study
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Characterization of Bacterial and Fungal Microbiome in Children with Hirschsprung Disease with and without a History of Enterocolitis: A Multicenter Study

Frykman, Philip K ; Nordenskjöld, Agneta ; Kawaguchi, Akemi ; Hui, Thomas T ; Granström, Anna L ; Cheng, Zhi ; Tang, Jie ; Underhill, David M ; Iliev, Iliyan ; Funari, Vince A ; Wester, Tomas Prusty Rao, Reeta

PloS one, 2015-04, Vol.10 (4), p.e0124172-e0124172 [Periódico revisado por pares]

United States: Public Library of Science

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2
Elimination of 15N-thymidine after oral administration in human infants
Elimination of 15N-thymidine after oral administration in human infants
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Elimination of 15N-thymidine after oral administration in human infants

Ammanamanchi, Niyatie ; Yester, Jessie ; Bargaje, Anita P ; Thomas, Dawn ; Little, Kathryn C ; Janzef, Shannon ; Francis, Kimberly ; Weinberg, Jacqueline ; Johnson, Jennifer ; Seery, Thomas ; Harris, Tyler Hutchinson ; Funari, Bryan J ; Rose-Felker, Kirsten ; Zinn, Matthew ; Miller, Susan A ; West, Shawn C ; Feingold, Brian ; Zhou, Hairu ; Steinhauser, Matthew L ; Csernica, Timothy ; Michener, Robert ; Kühn, Bernhard Wang, Chun-Hua

PloS one, 2024-01, Vol.19 (1), p.e0295651-e0295651 [Periódico revisado por pares]

United States: Public Library of Science

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3
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
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Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

Malaquias, Alexsandra C. ; Noronha, Renata M. ; Souza, Thaiana T.O. ; Homma, Thais K. ; Funari, Mariana F.A. ; Yamamoto, Guilherme L. ; Silva, Fernanda Viana ; Moraes, Michelle B. ; Honjo, Rachel S. ; Kim, Chong A. ; Nesi-França, Suzana ; Carvalho, Julienne A.R. ; Quedas, Elisangela P.S. ; Bertola, Debora R. ; Jorge, Alexander A.L.

Hormone research in paediatrics, 2019-01, Vol.91 (4), p.252-261 [Periódico revisado por pares]

Basel, Switzerland

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4
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
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Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

EMOND, Mary J ; LOUIE, Tin ; BARNES, Kathleen C ; GIBSON, Ronald L ; BAMSHAD, Michael J ; EMERSON, Julia ; WEI ZHAO ; MATHIAS, Rasika A ; KNOWLES, Michael R ; WRIGHT, Fred A ; RIEDER, Mark J ; TABOR, Holly K ; NICKERSON, Deborah A

Nature genetics, 2012-08, Vol.44 (8), p.886-889 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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5
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study
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Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study

Dantas, Naiara C.B. ; Funari, Mariana F.A. ; Vasques, Gabriela A. ; Andrade, Nathalia L.M. ; Rezende, Raíssa C. ; Brito, Vinicius ; Scalco, Renata C. ; Arnhold, Ivo J.P. ; Mendonca, Berenice B. ; Jorge, Alexander A.L.

Hormone research in paediatrics, 2022-08, Vol.95 (3), p.264-274 [Periódico revisado por pares]

Basel, Switzerland

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6
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile
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Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

Noronha, Renata M. ; Villares, Sandra M F ; Torres, Natalia ; Quedas, Elisangela P S ; Homma, Thais Kataoka ; Albuquerque, Edoarda V A ; Moraes, Michelle B ; Funari, Mariana F A ; Bertola, Debora R ; Jorge, Alexander A L ; Malaquias, Alexsandra C

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.774-780 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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7
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure
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A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure

França, Monica M. ; Funari, Mariana F. A. ; Lerario, Antonio M. ; Nishi, Mirian Y. ; Pita, Carmem C. ; Fontenele, Eveline G. P. ; Mendonca, Berenice B.

Endocrine, 2017-12, Vol.58 (3), p.442-447 [Periódico revisado por pares]

New York: Springer US

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8
TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer
TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer
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TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer

Seksenyan, Akop ; Kadavallore, Asha ; Walts, Ann E ; de la Torre, Brian ; Berel, Dror ; Strom, Samuel P ; Aliahmad, Parinaz ; Funari, Vincent A ; Kaye, Jonathan

BMC cancer, 2015-01, Vol.15 (1), p.22-22, Article 22 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Disease gene characterization through large-scale co-expression analysis
Disease gene characterization through large-scale co-expression analysis
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Disease gene characterization through large-scale co-expression analysis

Day, Allen ; Dong, Jun ; Funari, Vincent A ; Harry, Bret ; Strom, Samuel P ; Cohn, Dan H ; Nelson, Stanley F Creighton, Chad

PloS one, 2009-12, Vol.4 (12), p.e8491-e8491 [Periódico revisado por pares]

United States: Public Library of Science

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10
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Fu, Wenqing ; O'Connor, Timothy D ; Jun, Goo ; Kang, Hyun Min ; Abecasis, Goncalo ; Leal, Suzanne M ; Gabriel, Stacey ; Rieder, Mark J ; Altshuler, David ; Shendure, Jay ; Nickerson, Deborah A ; Bamshad, Michael J ; Akey, Joshua M

Nature (London), 2013-01, Vol.493 (7431), p.216-220 [Periódico revisado por pares]

England: Nature Publishing Group

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