Publications by authors named "Adila Al-Kindy"

13Publications

Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 () gene.

Authors:
Maha M Mameesh Adila Al-Kindy Majda Al-Yahyai Anuradha Ganesh

Ophthalmic Genet 2019 12 13;40(6):534-540. Epub 2019 Nov 13.

Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman.

View Article and Find Full Text PDF
December 2019

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Authors:
Shams Anazi Sateesh Maddirevula Vincenzo Salpietro Yasmine T Asi Saud Alsahli Amal Alhashem Hanan E Shamseldin Fatema AlZahrani Nisha Patel Niema Ibrahim Firdous M Abdulwahab Mais Hashem Nadia Alhashmi Fathiya Al Murshedi Adila Al Kindy Ahmad Alshaer Ahmed Rumayyan Saeed Al Tala Wesam Kurdi Abdulaziz Alsaman Ali Alasmari Selina Banu Tipu Sultan Mohammed M Saleh Hisham Alkuraya Mustafa A Salih Hesham Aldhalaan Tawfeg Ben-Omran Fatima Al Musafri Rehab Ali Jehan Suleiman Brahim Tabarki Ayman W El-Hattab Caleb Bupp Majid Alfadhel Nada Al Tassan Dorota Monies Stefan T Arold Mohamed Abouelhoda Tammaryn Lashley Henry Houlden Eissa Faqeih Fowzan S Alkuraya

Hum Genet 2018 01;137(1):105-109

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

View Article and Find Full Text PDF
January 2018

Expanding the genetic heterogeneity of intellectual disability.

Authors:
Shams Anazi Sateesh Maddirevula Vincenzo Salpietro Yasmine T Asi Saud Alsahli Amal Alhashem Hanan E Shamseldin Fatema AlZahrani Nisha Patel Niema Ibrahim Firdous M Abdulwahab Mais Hashem Nadia Alhashmi Fathiya Al Murshedi Adila Al Kindy Ahmad Alshaer Ahmed Rumayyan Saeed Al Tala Wesam Kurdi Abdulaziz Alsaman Ali Alasmari Selina Banu Tipu Sultan Mohammed M Saleh Hisham Alkuraya Mustafa A Salih Hesham Aldhalaan Tawfeg Ben-Omran Fatima Al Musafri Rehab Ali Jehan Suleiman Brahim Tabarki Ayman W El-Hattab Caleb Bupp Majid Alfadhel Nada Al Tassan Dorota Monies Stefan T Arold Mohamed Abouelhoda Tammaryn Lashley Henry Houlden Eissa Faqeih Fowzan S Alkuraya

Hum Genet 2017 11 22;136(11-12):1419-1429. Epub 2017 Sep 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

View Article and Find Full Text PDF
November 2017

Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.

Authors:
Zandrè Bruwer Nihal Al Riyami Tamima Al Dughaishi Fathiya Al Murshedi Abeer Al Sayegh Adila Al Kindy Douja Meftah Khalsa Al Kharusi Amel Al Foori Naeema Al Yarubi Patrick Scott Khalid Al-Thihli

J Perinat Med 2018 Nov;46(9):968-974

Department of Genetics, Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Sultanate ofOman.

View Article and Find Full Text PDF
November 2018

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:
Dorota Monies Mohamed Abouelhoda Moeenaldeen AlSayed Zuhair Alhassnan Maha Alotaibi Husam Kayyali Mohammed Al-Owain Ayaz Shah Zuhair Rahbeeni Mohammad A Al-Muhaizea Hamad I Alzaidan Edward Cupler Saeed Bohlega Eissa Faqeih Maha Faden Banan Alyounes Dyala Jaroudi Ewa Goljan Hadeel Elbardisy Asma Akilan Renad Albar Hesham Aldhalaan Shamshad Gulab Aziza Chedrawi Bandar K Al Saud Wesam Kurdi Nawal Makhseed Tahani Alqasim Heba Y El Khashab Hamoud Al-Mousa Amal Alhashem Imaduddin Kanaan Talal Algoufi Khalid Alsaleem Talal A Basha Fathiya Al-Murshedi Sameena Khan Adila Al-Kindy Maha Alnemer Sami Al-Hajjar Suad Alyamani Hasan Aldhekri Ali Al-Mehaidib Rand Arnaout Omar Dabbagh Mohammad Shagrani Dieter Broering Maha Tulbah Amal Alqassmi Maisoon Almugbel Mohammed AlQuaiz Abdulaziz Alsaman Khalid Al-Thihli Raashda A Sulaiman Wajeeh Al-Dekhail Abeer Alsaegh Fahad A Bashiri Alya Qari Suzan Alhomadi Hisham Alkuraya Mohammed Alsebayel Muddathir H Hamad Laszlo Szonyi Faisal Abaalkhail Sulaiman M Al-Mayouf Hamad Almojalli Khalid S Alqadi Hussien Elsiesy Taghreed M Shuaib Mohammed Zain Seidahmed Ibraheem Abosoudah Hana Akleh Abdulaziz AlGhonaium Turki M Alkharfy Fuad Al Mutairi Wafa Eyaid Abdullah Alshanbary Farrukh R Sheikh Fahad I Alsohaibani Abdullah Alsonbul Saeed Al Tala Soher Balkhy Randa Bassiouni Ahmed S Alenizi Maged H Hussein Saeed Hassan Mohamed Khalil Brahim Tabarki Saad Alshahwan Amira Oshi Yasser Sabr Saad Alsaadoun Mustafa A Salih Sarar Mohamed Habiba Sultana Abdullah Tamim Moayad El-Haj Saif Alshahrani Dalal K Bubshait Majid Alfadhel Tariq Faquih Mohamed El-Kalioby Shazia Subhani Zeeshan Shah Nabil Moghrabi Brian F Meyer Fowzan S Alkuraya

Hum Genet 2017 08 9;136(8):921-939. Epub 2017 Jun 9.

Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

View Article and Find Full Text PDF
August 2017

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

Authors:
Daniela A Braun Markus Schueler Jan Halbritter Heon Yung Gee Jonathan D Porath Jennifer A Lawson Rannar Airik Shirlee Shril Susan J Allen Deborah Stein Adila Al Kindy Bodo B Beck Nurcan Cengiz Khemchand N Moorani Fatih Ozaltin Seema Hashmi John A Sayer Detlef Bockenhauer Neveen A Soliman Edgar A Otto Richard P Lifton Friedhelm Hildebrandt

Kidney Int 2016 Feb;89(2):468-475

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

View Article and Find Full Text PDF
February 2016

De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.

Authors:
Achandira M Udayakumar Watfa Al-Mamari Abeer Al-Sayegh Adila Al-Kindy

Sultan Qaboos Univ Med J 2015 Aug 24;15(3):e415-9. Epub 2015 Aug 24.

Genetics, Sultan Qaboos University Hospital, Muscat, Oman.

View Article and Find Full Text PDF
August 2015

Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.

Authors:
Watfa Al-Mamari Abeer Al-Saegh Adila Al-Kindy Zandre Bruwer Fathiya Al-Murshedi Khalid Al-Thihli

J Autism Dev Disord 2015 Aug;45(8):2323-8

Genetics Department, College of Medicine, Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, PO Box 35, 123, Muscat, Sultanate of Oman.

View Article and Find Full Text PDF
August 2015

Erratum to: Existing Challenges Associated with Offering Prenatal Genetic Diagnosis in an Arab Society in the Sultanate of Oman.

Authors:
Zandrè Bruwer Achandira M Udayakumar Khalsa Al Kharousi Adila Al-Kindy

J Genet Couns 2015 Apr;24(2):373

Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman,

View Article and Find Full Text PDF
April 2015

Existing challenges associated with offering prenatal genetic diagnosis in an Arab society in the Sultanate of Oman.

Authors:
Zandrè Bruwer Udayakumar Achandira Khalsa Al Kharousi Adila Al-Kindy

J Genet Couns 2014 Dec 19;23(6):928-32. Epub 2014 Sep 19.

Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman,

View Article and Find Full Text PDF
December 2014

Constitutional trisomy 8 mosaicism syndrome: case report and review.

Authors:
Achandira M Udayakumar Adila Al-Kindy

J Pediatr Genet 2013 Dec;2(4):197-201

Clinical Genetics Unit, Department of Genetics, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.

View Article and Find Full Text PDF
December 2013

A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome.

Authors:
Achandira M Udayakumar Adila Al-Kindy

J Pediatr Genet 2013 Sep;2(3):141-6

Clinical Genetics Unit, Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Sultanate Oman.

View Article and Find Full Text PDF
September 2013

One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome.

Authors:
Roshan Koul Adila Al-Kindy Renjith Mani Dilip Sankhla Amna Al-Futaisi

Sultan Qaboos Univ Med J 2013 May 9;13(2):301-5. Epub 2013 May 9.

Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.

View Article and Find Full Text PDF
May 2013