The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar.

Al-Khawaga, Sara; Mohammed, Idris; Saraswathi, Saras; Haris, Basma; Hasnah, Reem; Saeed, Amira; Almabrazi, Hakeem; Syed, Najeeb; Jithesh, Puthen; El Awwa, Ahmed; Khalifa, Amal; AlKhalaf, Fawziya; Petrovski, Goran; Abdelalim, Essam M; Hussain, Khalid

Al-Khawaga, Sara; Mohammed, Idris; Saraswathi, Saras; Haris, Basma; Hasnah, Reem; Saeed, Amira; Almabrazi, Hakeem; Syed, Najeeb; Jithesh, Puthen; El Awwa, Ahmed; Khalifa, Amal; AlKhalaf, Fawziya; Petrovski, Goran; Abdelalim, Essam M; Hussain, Khalid.

Afiliação

Al-Khawaga S; College of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.
Mohammed I; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
Saraswathi S; Diabetes Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.
Haris B; College of Health & Life Sciences, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.
Hasnah R; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
Saeed A; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
Almabrazi H; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
Syed N; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
Jithesh P; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
El Awwa A; Biomedical Informatics Division, Sidra Medicine, Doha, Qatar.
Khalifa A; Biomedical Informatics Division, Sidra Medicine, Doha, Qatar.
AlKhalaf F; Biomedical Informatics Division, Sidra Medicine, Doha, Qatar.
Petrovski G; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.
Abdelalim EM; Faculty of medicine, Alexandria University, Alexandria, Egypt.
Hussain K; Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.

Mol Genet Genomic Med ; 7(10): e00753, 2019 10.

Article em En | MEDLINE | ID: mdl-31441606

Assuntos

Diabetes Mellitus/diagnóstico; Glicemia/análise; Diabetes Mellitus/epidemiologia; Diabetes Mellitus/genética; Diabetes Mellitus Tipo 1/diagnóstico; Diabetes Mellitus Tipo 1/genética; Elementos Facilitadores Genéticos; Epífises/anormalidades; Síndrome de Fanconi/diagnóstico; Síndrome de Fanconi/genética; Feminino; Deleção de Genes; Quinases do Centro Germinativo/genética; Transportador de Glucose Tipo 2/genética; Humanos; Incidência; Lactente; Recém-Nascido; Masculino; Osteocondrodisplasias/diagnóstico; Osteocondrodisplasias/genética; Linhagem; Fenótipo; Catar; Fatores de Transcrição/genética; Sequenciamento Completo do Genoma

Palavras-chave

GCK; HNF1B; INS; PTF1A; Fanconi-Bickel Syndrome (FBS); Permanent neonatal diabetes (PNDM); Whole Genome Sequencing (WGS); Wolcott-Rallison Syndrome (WRS); pancreatic agenesis

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus Idioma: En Ano de publicação: 2019 Tipo de documento: Article