Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel <i>LOXL3</i> Mutation.

Sood, Anubhuti; Shamim, Uzma; Kharbanda, Om P; Kabra, Madhulika; Gupta, Neerja; Mathur, Aradhana; Joshi, Aditi; Parveen, Shaista; Zahra, Sana; Sharma, Pooja; Seth, Malika; Khan, Afreen; Faruq, Mohammed; Mishra, Deepika

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.

Sood, Anubhuti; Shamim, Uzma; Kharbanda, Om P; Kabra, Madhulika; Gupta, Neerja; Mathur, Aradhana; Joshi, Aditi; Parveen, Shaista; Zahra, Sana; Sharma, Pooja; Seth, Malika; Khan, Afreen; Faruq, Mohammed; Mishra, Deepika.

Afiliação

Sood A; Centre for Dental Education and Research, 28730All India Institute of Medical Sciences, Delhi, India.
Shamim U; Genomics and Molecular Medicine, 28840CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
Kharbanda OP; Centre for Dental Education and Research, 28730All India Institute of Medical Sciences, Delhi, India.
Kabra M; 28730All India Institute of Medical Sciences, Delhi, India.
Gupta N; 28730All India Institute of Medical Sciences, Delhi, India.
Mathur A; Genomics and Molecular Medicine, 28840CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
Joshi A; Genomics and Molecular Medicine, 28840CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
Parveen S; Genomics and Molecular Medicine, 28840CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
Zahra S; Genomics and Molecular Medicine, 28840CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
Sharma P; Genomics and Molecular Medicine, 28840CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
Seth M; Genomics and Molecular Medicine, 28840CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
Khan A; Genomics and Molecular Medicine, 28840CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
Faruq M; Genomics and Molecular Medicine, 28840CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
Mishra D; Centre for Dental Education and Research, 28730All India Institute of Medical Sciences, Delhi, India.

Cleft Palate Craniofac J ; 59(11): 1329-1339, 2022 11.

Article em En | MEDLINE | ID: mdl-34787502

Assuntos

Variações do Número de Cópias de DNA; Síndrome de Pierre Robin; Aminoácido Oxirredutases/genética; Análise Citogenética; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Mutação; Nucleotídeos; Síndrome de Pierre Robin/diagnóstico; Síndrome de Pierre Robin/genética

Palavras-chave

India; Pierre Robin sequence; chromosomal microarray; cytogenetic defects; novel mutation; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Variações do Número de Cópias de DNA Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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