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A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation
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A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation

Hussain, Iram ; Patni, Nivedita ; Ueda, Masako ; Sorkina, Ekaterina ; Valerio, Cynthia M ; Cochran, Elaine ; Brown, Rebecca J ; Peeden, Joseph ; Tikhonovich, Yulia ; Tiulpakov, Anatoly ; Stender, Sarah R S ; Klouda, Elisabeth ; Tayeh, Marwan K ; Innis, Jeffrey W ; Meyer, Anders ; Lal, Priti ; Godoy-Matos, Amelio F ; Teles, Milena G ; Adams-Huet, Beverley ; Rader, Daniel J ; Hegele, Robert A ; Oral, Elif A ; Garg, Abhimanyu

The journal of clinical endocrinology and metabolism, 2018-03, Vol.103 (3), p.1005-1014 [Periódico revisado por pares]

United States: Copyright Oxford University Press

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2
PDX1 ‐MODY and dorsal pancreatic agenesis: New phenotype of a rare disease
PDX1 ‐MODY and dorsal pancreatic agenesis: New phenotype of a rare disease
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PDX1 ‐MODY and dorsal pancreatic agenesis: New phenotype of a rare disease

Caetano, L.A. ; Santana, L.S. ; Costa‐Riquetto, A.D. ; Lerario, A.M. ; Nery, M. ; Nogueira, G.F. ; Ortega, C.D. ; Rocha, M.S. ; Jorge, A.A.L. ; Teles, M.G.

Clinical genetics, 2018-02, Vol.93 (2), p.382-386 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
KISS1R Intracellular Trafficking and Degradation: Effect of the Arg386Pro Disease-Associated Mutation
KISS1R Intracellular Trafficking and Degradation: Effect of the Arg386Pro Disease-Associated Mutation
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KISS1R Intracellular Trafficking and Degradation: Effect of the Arg386Pro Disease-Associated Mutation

Bianco, Suzy D. C ; Vandepas, Lauren ; Correa-Medina, Mayrin ; Gereben, Balázs ; Mukherjee, Abir ; Kuohung, Wendy ; Carroll, Rona ; Teles, Milena G ; Latronico, Ana Claudia ; Kaiser, Ursula B

Endocrinology (Philadelphia), 2011-04, Vol.152 (4), p.1616-1626 [Periódico revisado por pares]

Chevy Chase, MD: Endocrine Society

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4
Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families
Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families
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Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families

Santana, L.S. ; Caetano, L.A. ; Costa‐Riquetto, A.D. ; Quedas, E.P.S. ; Nery, M. ; Collett‐Solberg, P. ; Boguszewski, M.C.S. ; Vendramini, M.F. ; Crisostomo, L.G. ; Floh, F.O. ; Zarabia, Z.I. ; Kohara, S.K. ; Guastapaglia, L. ; Passone, C.G.B. ; Sewaybricker, L.E. ; Jorge, A.A.L. ; Teles, M.G.

Clinical genetics, 2017-10, Vol.92 (4), p.388-396 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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5
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism
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A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

Teles, M G ; Trarbach, E B ; Noel, S D ; Guerra-Junior, G ; Jorge, A ; Beneduzzi, D ; Bianco, S D ; Mukherjee, A ; Baptista, M T ; Costa, E M ; De Castro, M ; Mendonça, B B ; Kaiser, U B ; Latronico, A C

European journal of endocrinology, 2010-07, Vol.163 (1), p.29-34 [Periódico revisado por pares]

England: BioScientifica

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6
Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3
Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3
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Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

Macedo, Delanie B ; Abreu, Ana Paula ; Reis, Ana Claudia S ; Montenegro, Luciana R ; Dauber, Andrew ; Beneduzzi, Daiane ; Cukier, Priscilla ; Silveira, Leticia F. G ; Teles, Milena G ; Carroll, Rona S ; Junior, Gil Guerra ; Filho, Guilherme Guaragna ; Gucev, Zoran ; Arnhold, Ivo J. P ; de Castro, Margaret ; Moreira, Ayrton C ; Martinelli, Carlos Eduardo ; Hirschhorn, Joel N ; Mendonca, Berenice B ; Brito, Vinicius N ; Antonini, Sonir R ; Kaiser, Ursula B ; Latronico, Ana Claudia

The journal of clinical endocrinology and metabolism, 2014-06, Vol.99 (6), p.E1097-E1103 [Periódico revisado por pares]

United States: Endocrine Society

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7
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil
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Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil

Costa‐Riquetto, Aline Dantas ; Santana, Lucas Santos ; Franco, Pedro Campos ; Jr, Augusto Cezar Santomauro ; Martio, Artur Eduardo ; Lisboa, Hugo Roberto Kurtz ; Kohara, Suely Keiko ; Teles, Milena G.

Clinical genetics, 2023-04, Vol.103 (4), p.434-447 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
1356-P: Can First-Trimester Glycated Hemoglobin Predict Gestational Diabetes Diagnosis?
1356-P: Can First-Trimester Glycated Hemoglobin Predict Gestational Diabetes Diagnosis?
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1356-P: Can First-Trimester Glycated Hemoglobin Predict Gestational Diabetes Diagnosis?

FARO, FERNANDA ; RAMALHO, RODRIGO F. ; PRIETO, WESLEY H. ; PEREIRA, MARIANA ; SALLES, JOAO E. ; ROSA, PEDRO S. ; TELES, MILENA G. ; TAVARES RUSSO, PEDRO DE SÁ

Diabetes (New York, N.Y.), 2020-06, Vol.69 (Supplement_1) [Periódico revisado por pares]

New York: American Diabetes Association

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9
1355-P: Association between Glycated Hemoglobin and Glycemia during First Trimester of Pregnancy
1355-P: Association between Glycated Hemoglobin and Glycemia during First Trimester of Pregnancy
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1355-P: Association between Glycated Hemoglobin and Glycemia during First Trimester of Pregnancy

FARO, FERNANDA ; RAMALHO, RODRIGO F. ; PRIETO, WESLEY H. ; PEREIRA, MARIANA ; SALLES, JOAO E. ; ROSA, PEDRO S. ; TELES, MILENA G. ; TAVARES RUSSO, PEDRO DE SÁ

Diabetes (New York, N.Y.), 2020-06, Vol.69 (Supplement_1) [Periódico revisado por pares]

New York: American Diabetes Association

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10
P41.05 Challenges of Implementing Lung Cancer Screening in Brazil: Preliminary Results of a Multicenter Group
P41.05 Challenges of Implementing Lung Cancer Screening in Brazil: Preliminary Results of a Multicenter Group
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P41.05 Challenges of Implementing Lung Cancer Screening in Brazil: Preliminary Results of a Multicenter Group

Rizvi, N. ; Camargo, S. ; Escovar, C.E. ; Chate, R. ; Szarf, G. ; Teles, G. ; Guimarães, M. ; Gross, J. ; Barbosa, P. ; Chiarantano, R. ; Reis, R. ; Mauad, E. ; Ghefter, M. ; Sarmento, P. ; Pereira, R. ; Rocha, J. ; Albuquerque, M. ; Franceschini, J.P. ; Hochhegger, B.

Journal of thoracic oncology, 2021-03, Vol.16 (3), p.S474-S474 [Periódico revisado por pares]

Elsevier Inc

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