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Refinado por: Nome da Publicação: Bmc Medical Genetics remover
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1
GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome a case-report
GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome a case-report
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GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome a case-report

Daniela Palheiro Mendes de Almeida Francianne Gomes Andrade; Gustavo Borges; Filipe V. dos Santos Bueno; Iracema F Vieira; Luana Kelly M. da S. da Rocha; Daniella A Mendes-da-Cruz; Rosely M Zancopé-Oliveira; Rodrigo Tocantins Calado; Maria Socorro Pombo-de-Oliveira

BMC Medical Genetics London v. 20, art. 64, 2019

London 2019

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 3008303 Estantes Deslizantes )(Acessar)

2
Clinical profile and molecular characterization of Galactosemia in Brazil identification of seven novel mutations
Clinical profile and molecular characterization of Galactosemia in Brazil identification of seven novel mutations
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Clinical profile and molecular characterization of Galactosemia in Brazil identification of seven novel mutations

Daniel F. Garcia José Simon Camelo Júnior; Greice Andreotti de Molfetta; Marlene Turcato; Carolina F. M Souza; Gilda Porta; Carlos E Steiner; Wilson Araújo da Silva Júnior

BMC Medical Genetics London v. 17, art. 39, 2016

London 2016

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2779842 Estantes Deslizantes )(Acessar)

3
Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing
Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing
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Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing

Liu, Fang ; Calhoun, Barbara ; Alam, Md Suhail ; Sun, Miaomiao ; Wang, Xuechun ; Zhang, Chao ; Haldar, Kasturi ; Lu, Xin

BMC medical genetics, 2020-02, Vol.21 (1), p.42-42, Article 42 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation
The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation
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The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

Ni, Xiaolin ; Jin, Chenxi ; Jiang, Yan ; Wang, Ou ; Li, Mei ; Xing, Xiaoping ; Xia, Weibo

BMC medical genetics, 2020-10, Vol.21 (1), p.214-214, Article 214 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

Arnadottir, Gudny A ; Jensson, Brynjar O ; Marelsson, Sigurdur E ; Sulem, Gerald ; Oddsson, Asmundur ; Kristjansson, Ragnar P ; Benonisdottir, Stefania ; Gudjonsson, Sigurjon A ; Masson, Gisli ; Thorisson, Gudmundur A ; Saemundsdottir, Jona ; Magnusson, Olafur Th ; Jonasdottir, Adalbjorg ; Jonasdottir, Aslaug ; Sigurdsson, Asgeir ; Gudbjartsson, Daniel F ; Thorsteinsdottir, Unnur ; Arngrimsson, Reynir ; Sulem, Patrick ; Stefansson, Kari

BMC medical genetics, 2017-10, Vol.18 (1), p.103-103, Article 103 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
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Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families

Su, Yu ; Gao, Xue ; Huang, Sha-Sha ; Mao, Jing-Ning ; Huang, Bang-Qing ; Zhao, Jian-Dong ; Kang, Dong-Yang ; Zhang, Xin ; Dai, Pu

BMC medical genetics, 2018-09, Vol.19 (1), p.157-157, Article 157 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature
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Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

Lin, Siying ; Harlalka, Gaurav V ; Hameed, Abdul ; Reham, Hadia Moattar ; Yasin, Muhammad ; Muhammad, Noor ; Khan, Saadullah ; Baple, Emma L ; Crosby, Andrew H ; Saleha, Shamim

BMC medical genetics, 2018-09, Vol.19 (1), p.160-160, Article 160 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature
BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature
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BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature

Ali, Mir ; Delozier, Celia Dawn ; Chaudhary, Uzair

BMC medical genetics, 2019-05, Vol.20 (1), p.75-75, Article 75 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report
Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report
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Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report

Bastaki, Fatma ; Nair, Pratibha ; Mohamed, Madiha ; Malik, Ethar Mustafa ; Helmi, Mustafa ; Al-Ali, Mahmoud Taleb ; Hamzeh, Abdul Rezzak

BMC medical genetics, 2017-06, Vol.18 (1), p.68-68, Article 68 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome
Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome
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Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome

Le Thi Thanh, Huong ; Do Thi Diem, Trinh ; Duy, Chinh Vu ; Thanh, Ha Ly Thi ; Phuong, Hoa Bui Thi ; Thanh, Liem Nguyen

BMC medical genetics, 2018-08, Vol.19 (1), p.137-137, Article 137 [Periódico revisado por pares]

England: BioMed Central Ltd

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Deste Autor:

  1. Almeida, D
  2. Bueno, F
  3. Pombo-De-Oliveira, M
  4. Silva Júnior, W
  5. Borges, G

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Mutation

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