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1
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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2
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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3
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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4
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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5
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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6
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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7
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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8
Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency
Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency
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Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency

Scalco, Renata C ; Melo, Suzana S. J ; Pugliese-Pires, Patricia N ; Funari, Mariana F. A ; Nishi, Mirian Y ; Arnhold, Ivo J. P ; Mendonca, Berenice B ; Jorge, Alexander A. L

The journal of clinical endocrinology and metabolism, 2010-01, Vol.95 (1), p.328-332 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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9
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
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The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis

Malaquias, Alexsandra C. ; Scalco, Renata C. ; Fontenele, Eveline G.P. ; Costalonga, Everlayny F. ; Baldin, Alexandre D. ; Braz, Adriana F. ; Funari, Mariana F.A. ; Nishi, Mirian Y. ; Guerra-Junior, Gil ; Mendonca, Berenice B. ; Arnhold, Ivo J.P. ; Jorge, Alexander A.L.

Hormone research in paediatrics, 2013-01, Vol.80 (6), p.449-456 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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10
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development
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Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development

Gomes, Nathalia Lisboa ; Batista, Rafael Loch ; Nishi, Mirian Y ; Lerário, Antônio Marcondes ; Silva, Thatiana E ; de Moraes Narcizo, Amanda ; Benedetti, Anna Flávia Figueredo ; de Assis Funari, Mariana Ferreira ; Faria Junior, José Antônio ; Moraes, Daniela Rodrigues ; Quintão, Lia Mesquita Lousada ; Montenegro, Luciana Ribeiro ; Ferrari, Maria Teresa Martins ; Jorge, Alexander A ; Arnhold, Ivo J P ; Costa, Elaine Maria Frade ; Domenice, Sorahia ; Mendonca, Berenice Bilharinho

The journal of clinical endocrinology and metabolism, 2022-04, Vol.107 (5), p.e1797-e1806 [Periódico revisado por pares]

United States: Oxford University Press

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