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Circadian rhythm and profile in patients with juvenile myoclonic epilepsy and temporal lobe epilepsy
Circadian rhythm and profile in patients with juvenile myoclonic epilepsy and temporal lobe epilepsy
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Circadian rhythm and profile in patients with juvenile myoclonic epilepsy and temporal lobe epilepsy

Fukuda, Aya ; Funari, Mateus P ; Fernandes, Paula T ; Guerreiro, Carlos Mantovani ; Li, Li Min

Arquivos de neuro-psiquiatria, 2015-01, Vol.73 (1), p.3-6 [Periódico revisado por pares]

Brazil: Academia Brasileira de Neurologia - ABNEURO

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2
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature
Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature
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Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

Vasques, Gabriela A ; Amano, Naoko ; Docko, Ana J ; Funari, Mariana F. A ; Quedas, Elisangela P. S ; Nishi, Mirian Y ; Arnhold, Ivo J. P ; Hasegawa, Tomonobu ; Jorge, Alexander A. L

The journal of clinical endocrinology and metabolism, 2013-10, Vol.98 (10), p.E1636-E1644 [Periódico revisado por pares]

United States: Endocrine Society

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3
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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4
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency
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Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

Franca, Monica M ; Han, Xingfa ; Funari, Mariana F A ; Lerario, Antonio M ; Nishi, Mirian Y ; Fontenele, Eveline G P ; Domenice, Sorahia ; Jorge, Alexander A L ; Garcia-Galiano, David ; Elias, Carol F ; Mendonca, Berenice B

The journal of clinical endocrinology and metabolism, 2019-07, Vol.104 (7), p.2827-2841 [Periódico revisado por pares]

Washington, DC: Endocrine Society

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5
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature
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Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature

Freire, Bruna L ; Homma, Thais K ; Funari, Mariana F A ; Lerario, Antônio M ; Vasques, Gabriela A ; Malaquias, Alexsandra C ; Arnhold, Ivo J P ; Jorge, Alexander A L

The journal of clinical endocrinology and metabolism, 2019-06, Vol.104 (6), p.2023-2030 [Periódico revisado por pares]

Washington, DC: Endocrine Society

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6
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets
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Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets

Colares Neto, G. P. ; Pereira, R. M. R. ; Alvarenga, J. C. ; Takayama, L. ; Funari, M. F. A. ; Martin, R. M.

Osteoporosis international, 2017-05, Vol.28 (5), p.1685-1692 [Periódico revisado por pares]

London: Springer London

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7
Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
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Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2

Vasques, Gabriela A. ; Hisado-Oliva, Alfonso ; Funari, Mariana F.A. ; Lerario, Antonio M. ; Quedas, Elisangela P.S. ; Solberg, Paulo ; Heath, Karen E. ; Jorge, Alexander A.L.

Journal of Pediatric Endocrinology & Metabolism, 2017-01, Vol.30 (1), p.111-116 [Periódico revisado por pares]

Germany: De Gruyter

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8
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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9
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients
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Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients

Freire, Bruna L. ; Homma, Thais K. ; Funari, Mariana F.A. ; Lerario, Antônio M. ; Leal, Aline M. ; Velloso, Elvira D.R.P. ; Malaquias, Alexsandra C. ; Jorge, Alexander A.L.

European journal of medical genetics, 2018-03, Vol.61 (3), p.130-133 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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10
Altered fecal short chain fatty acid composition in children with a history of Hirschsprung-associated enterocolitis
Altered fecal short chain fatty acid composition in children with a history of Hirschsprung-associated enterocolitis
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Altered fecal short chain fatty acid composition in children with a history of Hirschsprung-associated enterocolitis

Demehri, Farokh R ; Frykman, Philip K ; Cheng, Zhi ; Ruan, Chunhai ; Wester, Tomas ; Nordenskjöld, Agneta ; Kawaguchi, Akemi ; Hui, Thomas T ; Granström, Anna L ; Funari, Vince ; Teitelbaum, Daniel H

Journal of pediatric surgery, 2016-01, Vol.51 (1), p.81-86 [Periódico revisado por pares]

United States: Elsevier Inc

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