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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Al-Hamed, Mohamed H; Kurdi, Wesam; Khan, Rubina; Tulbah, Maha; AlNemer, Maha; AlSahan, Nada; AlMugbel, Maisoon; Rafiullah, Rafiullah; Assoum, Mirna; Monies, Dorota; Shah, Zeeshan; Rahbeeni, Zuhair; Derar, Nada; Hakami, Fahad; Almutairi, Gawaher; AlOtaibi, Afaf; Ali, Wafaa; AlShammasi, Amal; AlMubarak, Wardah; AlDawoud, Samia; AlAmri, Saja; Saeed, Bashayer; Bukhari, Hanifa; Ali, Mohannad; Akili, Rana; Alquayt, Laila; Hagos, Samia; Elbardisy, Hadeel; Akilan, Asma; Almuhana, Nora; AlKhalifah, Abrar; Abouelhoda, Mohamed; Ramzan, Khushnooda; Sayer, John A; Imtiaz, Faiqa.
Afiliação
  • Al-Hamed MH; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia. Hamed@kfshrc.edu.sa.
  • Kurdi W; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia. Hamed@kfshrc.edu.sa.
  • Khan R; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Tulbah M; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • AlNemer M; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • AlSahan N; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • AlMugbel M; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Rafiullah R; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Assoum M; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia.
  • Monies D; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia.
  • Shah Z; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia.
  • Rahbeeni Z; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia.
  • Derar N; Medical Genetics Department, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, Saudi Arabia.
  • Hakami F; Medical Genetics Department, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, Saudi Arabia.
  • Almutairi G; King Abdulaziz Medical City/King Saud bin Abdulaziz University for Health Science, Jeddah, Saudi Arabia.
  • AlOtaibi A; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Ali W; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia.
  • AlShammasi A; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia.
  • AlMubarak W; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia.
  • AlDawoud S; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • AlAmri S; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Saeed B; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Bukhari H; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Ali M; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Akili R; Department of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.
  • Alquayt L; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia.
  • Hagos S; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia.
  • Elbardisy H; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia.
  • Akilan A; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia.
  • Almuhana N; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia.
  • AlKhalifah A; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia.
  • Abouelhoda M; Saudi Diagnostics Laboratory, KFSHI, P.O.BOX 6802, Riyadh, 12311, Saudi Arabia.
  • Ramzan K; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia.
  • Sayer JA; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P. O. Box 3354, Riyadh, Saudi Arabia.
  • Imtiaz F; Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Hum Genet ; 141(1): 101-126, 2022 Jan.
Article em En | MEDLINE | ID: mdl-34853893
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 6_ODS3_enfermedades_notrasmisibles Problema de saúde: 6_congenital_chromosomal_anomalies Assunto principal: Variação Genética / Aberrações Cromossômicas / Feto / Ciliopatias Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Hum Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 6_ODS3_enfermedades_notrasmisibles Problema de saúde: 6_congenital_chromosomal_anomalies Assunto principal: Variação Genética / Aberrações Cromossômicas / Feto / Ciliopatias Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Hum Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Arábia Saudita