M. Faiyaz-ul-Haque

发表

Evaluation of blood lead levels and their association with haematological and liver function test parameters in Saudi workers from Riyadh region, KSA

S. Tabassum, A. Alyousef, A. Alsaeed, 2017 .

A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type

L. Tsui, A. Teebi, Sumbal Zaidi, 2004, American journal of medical genetics. Part A.

A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis.

S. Leal, M. Rafiq, S. Mahmood, 2004, The Journal of investigative dermatology.

Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.

L. Tsui, T. Siddique, A. Teebi, 2002, American journal of medical genetics.

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

S. Menon, S. Nampoothiri, A. De Paepe, 2012, Orphanet Journal of Rare Diseases.

Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers–Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (β4GalT-7)

L. Kiesel, M. Götte, A. Teebi, 2006, Journal of Molecular Medicine.

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13

L. Tsui, A. Lindinger, A. Teebi, 2004, Clinical genetics.

A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease)

F. Al-Dayel, A. Alaiya, H. Abalkhail, 2009, Clinical genetics.

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

L. Tsui, N. Kaya, F. Al-Dayel, 2009, Atherosclerosis.

Mutation in the cartilage‐derived morphogenetic protein‐1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)

L. Tsui, A. Teebi, W. Ahmad, 2002, Clinical genetics.

Novel mutation in the gene encoding c‐Abl‐binding protein SH3BP2 causes cherubism

L. Tsui, A. Teebi, R. Aviv, 2003, American journal of medical genetics. Part A.

Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome

Z. Nawaz, S. Basit, A. Alsaeed, 2022, Journal of cutaneous pathology.

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin

A. Teebi, A. Lindinger, V. Peltekova, 2009, European Journal of Pediatrics.

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

L. Tsui, A. Teebi, A. Eltohami, 2008, Clinical genetics.

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds

N. Kaya, E. Faqeih, M. Rashed, 2014, Annals of Saudi medicine.

Mutations in the CHX10 gene in non‐syndromic microphthalmia/anophthalmia patients from Qatar

L. Tsui, A. Teebi, I. Peltekova, 2007, Clinical genetics.

CHLAMYDIA INFECTION

A. L. Wong, J. Belmont, F. Lammert, 2001 .

Mutations in MSX1, PAX9 and MMP20 genes in Saudi Arabian patients with tooth agenesis.

M. Shahid, V. Dhillon, A. Somily, 2016, European journal of medical genetics.

Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease

B. Wolf, M. Faiyaz-ul-Haque, A. Chedrawi, 2008, Journal of child neurology.

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

F. Al-Dayel, A. Cluntun, Z. Al-Hassnan, 2009, European Journal of Pediatrics.

Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients

F. Al-Dayel, B. Bin-Abbas, I. Peltekova, 2009, Clinical genetics.

Novel and Recurrent Mutations in the C1NH Gene of Arab Patients Affected with Hereditary Angioedema

F. Al-Dayel, A. Khaliq, H. Abalkhail, 2009, International Archives of Allergy and Immunology.

A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations

F. Al-Dayel, A. Alaiya, H. Abalkhail, 2010, European Journal of Pediatrics.

Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients

Z. Nawaz, F. Al-Dayel, Hussah F. Alhussaini, 2018, Asian Pacific journal of cancer prevention : APJCP.

Autoimmune polyglandular syndrome type 1 in Saudi children.

S. Al‐Muhsen, B. Bin-Abbas, M. Faiyaz-ul-Haque, 2010, Saudi medical journal.

Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease.

Z. Nawaz, S. Basit, F. Al-Dayel, 2020, Cancer genetics.

Multiple paraganglioma syndrome type 4 due to succinate dehydrogenase B mutation: diagnostic and therapeutic challenges of a skull base paraganglioma masquerading as nasopharyngeal cancer.

F. Al-Dayel, A. Alzahrani, H. Abalkhail, 2010, Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.

Fine mapping of the X‐linked split‐hand/split‐foot malformation (SHFM2) locus to a 5.1‐Mb region on Xq26.3 and analysis of candidate genes

L. Tsui, T. Siddique, W. Ahmad, 2004, Clinical genetics.

The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9‐cM region on chromosome 11q23

L. Tsui, B. Banwell, S. Blaser, 2004, Clinical genetics.

Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria

H. Abalkhail, T. Shuaib, I. Peltekova, 2012, Clinical Genetics.

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation

A. Alashwal, B. Bin-Abbas, S. Zaidi, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5

E. Faqeih, S. Zaidi, M. Faiyaz-ul-Haque, 2008, Journal of Bone and Mineral Metabolism.

Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene

A. Teebi, I. Peltekova, M. Faiyaz-ul-Haque, 2009, Clinical genetics.

[Arterial tortuosity syndrome].

A. Lindinger, H. Limbach, M. Faiyaz-ul-Haque, 2020, Klinische Padiatrie.

Novel and Recurrent Mutations in the C1NH Gene of Arab Patients Affected with Hereditary Angioedema

F. Al-Dayel, A. Khaliq, H. Abalkhail, 2009, International Archives of Allergy and Immunology.