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1
The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI
The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI

N. Frede M Depner; J Raabe; R Doffinger; E Gkrania-Klotsas; D Kumararatne; T. P Atkinson; H. W Schroeder; T Niehues; C. M. A Jacob; M. M. S Carneiro-Sampaio; G Duckers; J Puck; E. M Eisenstein; A Stay-Pedersen; U Bauman; R. E Schmidt; J. L Franco; J. C Orrego; M Ben-Shoshan; C McCusker; L. A Devlin; J. D Edgar; P Henderson; T Dyrso; S. L Seneviratne; J Wanders; H Stauss; I Meyts; L Moens; M Jesenak; B Grimbacher; Biennal Meeting of the European Society for Immunodeficiencies/ ESID 2014 (16. Praga/Republic Tcheca

Journal of Clinical Immunology New York v. 34, supl 2, p. S339, 2014

New York 2014

Localização: FM - Fac. Medicina    (BCSEP 286 2014 )(Acessar)

2
Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty
Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty
Material Type:
Artigo 		Adicionar ao Meu Espaço

Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty

Acácio P. Silveira-Neto Leticia Ferro Leal; Amy B Emerman; Katherine D Henderson; Elena Piskounova; Brian E Henderson; Richard I Gregory; Letícia F. Gontijo Silveira; Joel N Hirschhorn; Thutrang T Nguyen; Daiane Beneduzzi; Cintia Tusset; Ana Claudia S Reis; Vinicius N Brito; Berenice B Mendonca; Mark R Palmert; Sonir R Antonini; Ana Claudia Latronico

Hormone Research in Paediatrics Basel v.78, n. 3, p. 144-150, 2012

Basel 2012

Localização: FM - Fac. Medicina    (BCSEP 334 2012 )(Acessar)

3
Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty
Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty
Material Type:
Artigo 		Adicionar ao Meu Espaço

Absence of Functional LIN28B Mutations in a Large Cohort of Patients with Idiopathic Central Precocious Puberty

Acácio P. Silveira-Neto Leticia Ferro Leal; Amy B Emerman; Katherine D Henderson; Elena Piskounova; Brian E Henderson; Richard I Gregory; Letícia F. Gontijo Silveira; Joel N Hirschhorn; Thutrang T Nguyen; Daiane Beneduzzi; Cintia Tusset; Ana Claudia S Reis; Vinicius N Brito; Berenice B Mendonca; Mark R Palmert; Sonir R Antonini; Ana Claudia Latronico

Hormone Research in Paediatrics Basel v.78, n. 3, p. 144-150, 2012

Basel 2012

Localização: FM - Fac. Medicina    (BCSEP 334 2012 )(Acessar)

4
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
Material Type:
Artigo 		Adicionar ao Meu Espaço

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

Mark Depner Sebastian Fuchs; Jan Raabe; Natalie Frede; Cristina Glocker; Rainer Doffinger; Effrossyni Gkrania-Klotsas; Dinakantha Kumararatne; T. Prescott Atkinson; Harry W Schroeder Jr.; Tim Niehues; Gregor Dückers; Asbjørg Stray-Pedersen; Ulrich Baumann; Reinhold Schmidt; Jose L Franco; Julio Orrego; Moshe Ben-Shoshan; Christine McCusker; Cristina Miuki Abe Jacob; Magda Carneiro-Sampaio; Lisa A Devlin; J. David M Edgar; Paul Henderson; Richard K Russell; Anne-Bine Skytte; Suranjith L Seneviratne; Jennifer Wanders; Hans Stauss; Isabelle Meyts; Leen Moens; Milos Jesenak; Robin Kobbe; Stephan Borte; Michael Borte; Dowain A Wright; David Hagin; Troy R Torgerson; Bodo Grimbacher

Journal of Clinical Immunology New York : Springer v. 36, n. 1, p. 73-84, 2016

New York 2016

Localização: FM - Fac. Medicina    (BCSEP 064 2016 )(Acessar)

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Deste Autor:

  1. Niehues, T
  2. Henderson, K
  3. Frede, N
  4. Latronico, A
  5. Reis, A

Neste Assunto:

  1. Meninas
  2. Hormônio Liberador De Gonadotrofinas
  3. Crianças
  4. Puberdade Precoce (Tratamento)
  5. Mutação Genética

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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