Publications by authors named "Faiqa Imtiaz"

48Publications

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.

Genes (Basel) 2020 Aug 20;11(9). Epub 2020 Aug 20.

Genetics Department, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.3390/genes11090967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565137PMC
August 2020

Genotype-phenotype correlation of 33 patients with maple syrup urine disease.

Am J Med Genet A 2020 Aug 19. Epub 2020 Aug 19.

Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61806DOI Listing
August 2020

LEOPARD Syndrome with Gene Mutation in Three Family Members Presenting with Different Phenotypes.

J Pediatr Genet 2020 Dec 15;9(4):246-251. Epub 2019 Nov 15.

Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1055/s-0039-3400226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396475PMC
December 2020

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.

J Nephrol 2020 Jul 8. Epub 2020 Jul 8.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s40620-020-00795-0DOI Listing
July 2020

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.

Am J Med Genet B Neuropsychiatr Genet 2020 04 19;183(3):172-180. Epub 2019 Dec 19.

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

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http://dx.doi.org/10.1002/ajmg.b.32774DOI Listing
April 2020

First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations.

Blood Coagul Fibrinolysis 2019 07;30(5):224-232

Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre and Center of Excellence in Thrombosis and Hemostasis, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/MBC.0000000000000828DOI Listing
July 2019

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.

Pediatr Nephrol 2019 09 11;34(9):1615-1623. Epub 2019 May 11.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s00467-019-04267-xDOI Listing
September 2019

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.

Int J Pediatr Otorhinolaryngol 2018 May 14;108:17-21. Epub 2018 Feb 14.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183008
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http://dx.doi.org/10.1016/j.ijporl.2018.02.016DOI Listing
May 2018

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.

BMC Med Genet 2018 01 30;19(1):18. Epub 2018 Jan 30.

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

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http://dx.doi.org/10.1186/s12881-018-0531-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789735PMC
January 2018

A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria.

Eur J Med Genet 2018 Jun 8;61(6):307-311. Epub 2018 Jan 8.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.01.007DOI Listing
June 2018

SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.

J Pediatr Gastroenterol Nutr 2018 02;66(2):250-252

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

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http://dx.doi.org/10.1097/MPG.0000000000001694DOI Listing
February 2018

Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.

Horm Res Paediatr 2017 25;88(2):119-126. Epub 2017 Jul 25.

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

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http://dx.doi.org/10.1159/000475991DOI Listing
May 2018

Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.

Eur J Med Genet 2017 Jun 28;60(6):308-311. Epub 2017 Mar 28.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.03.011DOI Listing
June 2017

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.

BMC Endocr Disord 2017 Mar 16;17(1):17. Epub 2017 Mar 16.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O.Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/s12902-017-0164-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356396PMC
March 2017

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Proc Natl Acad Sci U S A 2016 May 9;113(21):5993-8. Epub 2016 May 9.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136

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http://dx.doi.org/10.1073/pnas.1522512113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889368PMC
May 2016

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.

Genet Med 2016 12 28;18(12):1244-1249. Epub 2016 Apr 28.

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

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http://dx.doi.org/10.1038/gim.2016.37DOI Listing
December 2016

Molecular characterization of novel splice site mutation causing protein C deficiency.

Blood Coagul Fibrinolysis 2016 Jul;27(5):585-8

aSaudi Diagnostics Laboratory (SDL), Genetics Department, King Faisal Specialist Hospital and Research Centre bPediatric Hematology Division, Pediatrics Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1097/MBC.0000000000000490DOI Listing
July 2016

Variation in DNAH1 may contribute to primary ciliary dyskinesia.

BMC Med Genet 2015 Mar 17;16:14. Epub 2015 Mar 17.

Department of Medical Genetics, King Faisal Specialist Hospital & Research Centre, PO Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/s12881-015-0162-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422061PMC
March 2015

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.

Eur J Med Genet 2015 May 13;58(5):293-9. Epub 2015 Feb 13.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.008DOI Listing
May 2015

Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD).

Am J Med Genet A 2015 Feb 26;167A(2):434-7. Epub 2014 Nov 26.

Department of Medicine, King Faisal Hospital & Research Centre, Riyadh, Saudia Arabia.

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http://dx.doi.org/10.1002/ajmg.a.36858DOI Listing
February 2015

ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.

Eur J Med Genet 2014 May-Jun;57(6):253-8. Epub 2014 Apr 21.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O.Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ejmg.2014.04.004DOI Listing
February 2015

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.

Int J Pediatr Otorhinolaryngol 2014 Mar 18;78(3):427-32. Epub 2013 Dec 18.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ijporl.2013.12.008DOI Listing
March 2014

Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family.

Gene 2013 May 16;521(1):195-9. Epub 2013 Mar 16.

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

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http://dx.doi.org/10.1016/j.gene.2013.03.042DOI Listing
May 2013

Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.

JIMD Rep 2012 6;2:107-11. Epub 2011 Sep 6.

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

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http://link.springer.com/10.1007/8904_2011_57
Publisher Site
http://dx.doi.org/10.1007/8904_2011_57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509848PMC
February 2013

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

Clin Dysmorphol 2013 Jan;22(1):39-41

Department of Pediatrics, Royal Hospital, Muscat, Oman.

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http://dx.doi.org/10.1097/MCD.0b013e32835c297eDOI Listing
January 2013

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Eur J Pediatr 2011 Jan 24;170(1):121-6. Epub 2010 Sep 24.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, MBC 75, PO Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s00431-010-1298-0DOI Listing
January 2011

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.

J Inherit Metab Dis 2010 Dec 22;33 Suppl 3:S263-7. Epub 2010 Jun 22.

Department of Medical Genetics, MBC-75, King Faisal Specialist Hospital & Research Centre, PO BOX 3345, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s10545-010-9143-1DOI Listing
December 2010

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.

BMC Res Notes 2010 Mar 18;3:79. Epub 2010 Mar 18.

Saudi Diagnostics Laboratory, King Faisal Specialist Hospital & Research Centre, PO Box 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/1756-0500-3-79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2851718PMC
March 2010

Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.

Prenat Diagn 2009 May;29(5):477-80

National Laboratory for Newborn Screening, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1002/pd.2223DOI Listing
May 2009

Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes.

Diabetes Metab Res Rev 2008 Feb;24(2):137-40

Arabian Diagnostic Laboratory (ADL), Research Centre, King Faisal Specialist Hospital and Research Centre, and Diabetes Center, King Abdulaziz University Hospital, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/dmrr.777DOI Listing
February 2008

Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.

BMC Med Genet 2006 Dec 16;7:86. Epub 2006 Dec 16.

Department of Medical Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/1471-2350-7-86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1764877PMC
December 2006

An apamin- and scyllatoxin-insensitive isoform of the human SK3 channel.

Mol Pharmacol 2004 Mar;65(3):788-801

Department of Applied Physiology, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1124/mol.65.3.788DOI Listing
March 2004