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Nadia Sakati

Research Profile

Geographic Areas

Saudi Arabia

Living Beings

Genes & Molecular Sequences

Recessive Genes

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Physiology

Chemicals & Drugs

Insulin

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Insulin Infusion Systems

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Publications

TOP 3
M Al-Owain; H Bamashmous; A Edrees; Eissa Faqeih; W Garout; Faiqa Imtiaz; B Meyer; Zuhair Rahbeeni; Mohamed S Rashed; Nadia A Sakati; T Shuaib; S Al-Ameer; Mohammed Al-Amoudi; A Al-Hashem; Zuhair N Al-Hassnan; Ali N Al Odaib; J Y Al-Aama
Smith-Lemli-Opitz syndrome among Arabs.
Ola Khalifa; Nadia A Sakati; Ameera Balobaid; James Hyland; Faiqa Imtiaz; Gheid Abuharb; Zuhair N Al-Hassnan; Amal Al-Hemidan; Rabab Allam; Khalid Al-Mane; Mohammed Al-Owain
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
Namik Kaya; Inci V Kayaalp; Nahit M Mukaddes; Michael J Nester; Nadia A Sakati; Nada Abu-Dheim; Albandary Albakheet; Hesham Al-Dhalaan; Mohammad Al-Dosari; Naji Al-Dosari; Zuhair N Al-Hassnan; Fowzan S Alkuraya; Ali N Al Odaib; Mohammad Al-Owain; Moeenaldeen Al-Sayed; Banan Al-Younes; Jawaher Al-Zahrani; Aziza Chedrawi; Dilek Colak; Aysin Dervent; Generaso G Gascon; Hulya Gunoz; Bedri Karakas; Pinar T Ozand
A novel X-linked disorder with developmental delay and autistic features.

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All Publications

2012: M Al-Owain; H Bamashmous; A Edrees; Eissa Faqeih; W Garout; Faiqa Imtiaz; B Meyer; Zuhair Rahbeeni; Mohamed S Rashed; Nadia A Sakati; T Shuaib; S Al-Ameer; Mohammed Al-Amoudi; A Al-Hashem; Zuhair N Al-Hassnan; Ali N Al Odaib; J Y Al-Aama
Smith-Lemli-Opitz syndrome among Arabs.
Clinical genetics 2012;82(2):165-72.
2012: Ola Khalifa; Nadia A Sakati; Ameera Balobaid; James Hyland; Faiqa Imtiaz; Gheid Abuharb; Zuhair N Al-Hassnan; Amal Al-Hemidan; Rabab Allam; Khalid Al-Mane; Mohammed Al-Owain
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
Journal of medical genetics 2012;49(4):246-8.
2012: Namik Kaya; Inci V Kayaalp; Nahit M Mukaddes; Michael J Nester; Nadia A Sakati; Nada Abu-Dheim; Albandary Albakheet; Hesham Al-Dhalaan; Mohammad Al-Dosari; Naji Al-Dosari; Zuhair N Al-Hassnan; Fowzan S Alkuraya; Ali N Al Odaib; Mohammad Al-Owain; Moeenaldeen Al-Sayed; Banan Al-Younes; Jawaher Al-Zahrani; Aziza Chedrawi; Dilek Colak; Aysin Dervent; Generaso G Gascon; Hulya Gunoz; Bedri Karakas; Pinar T Ozand
A novel X-linked disorder with developmental delay and autistic features.
Annals of neurology 2012;71(4):498-508.
2011: Jawaher Al-Zahrani; Naji Al-Dosari; Nada Abudheim; Tarfa A Alshidi; Dilek Colak; Ola Al-Habit; Ali N Al Odaib; Nadia A Sakati; Brian Meyer; Pinar T Ozand; Namik Kaya
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects.
Molecular cytogenetics 2011;4():9.
2010: Ranad Shaheen; Mohammed Al-Owain; Nadia A Sakati; Zayed S Alzayed; Fowzan S Alkuraya
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?
American journal of human genetics 2010;87(2):306-7; author reply 308.
2008: Anas Alazami; Amr Al-Saif; Abdulaziz Al-Semari; Saeed Bohlega; Soumaya Zlitni; Fatema Alzahrani; Prashant Bavi; Namik Kaya; Dilek Colak; Hanif Khalak; Andy Baltus; Borut Peterlin; Sumita Danda; Kailash P Bhatia; Susanne A Schneider; Nadia A Sakati; Christopher Walsh; Futwan Al-Mohanna; Brian Meyer; Fowzan S Alkuraya
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
American journal of human genetics 2008;83(6):684-91.
2008: Namik Kaya; Faiqa Imtiaz; Dilek Colak; Moeenaldeen Al-Sayed; Ali N Al Odaib; Fatma Al-Zahrani; Bashayer R Al-Mubarak; Mohammad Al-Owain; Hesham Al-Dhalaan; Aziza Chedrawi; Zuhair N Al-Hassnan; Serdar Coskun; Nadia A Sakati; Pinar T Ozand; Brian F Meyer
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(9):675-84.
2007: Eissa Faqeih; Samhar I Al-Akash; Nadia A Sakati; Prof Ahmad S Teebi
Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: a possible new autosomal recessive syndrome.
American journal of medical genetics. Part A 2007;143A(17):1951-7.
2006: Bassam S Bin-Abbas; Nadia A Sakati; Abdullah A Al-Ashwal
Glycemic control and treatment satisfaction in Saudi diabetic children on insulin pump therapy.
Annals of Saudi medicine 2006;26(5):405.
2006: Bassam S Bin-Abbas; Abdullah A Al-Ashwal; Nadia A Sakati
Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children: a comparison with multiple daily insulin injections.
Annals of Saudi medicine 2006;26(4):327-8.
2006: Saleh Al-Nassar; Nadia A Sakati; Abdullah A Al-Ashwal; Bassam S Bin-Abbas
Persistent hyperinsulinaemic hypoglycaemia of infancy in 43 children: long-term clinical and surgical follow-up.
Asian journal of surgery / Asian Surgical Association 2006;29(3):207-11.
2006: Bassam S Bin-Abbas; Nadia A Sakati; Abdullah A Al-Ashwal
Glycemic control and treatment satisfaction in Saudi diabetic children on insulin pump therapy.
Annals of Saudi medicine 2006;26(3):247-8.
2006: Bassam S Bin-Abbas; Nadia A Sakati; Abdullah A Al-Ashwal
Gender identity in congenital adrenal hyperplasia secondary to 11-hydroxylase deficiency.
Annals of Saudi medicine 2006;26(3):239-41.
2006: Bassam S Bin-Abbas; Abdulmoein E Al-Agha; Nadia A Sakati; Abdullah A Al-Ashwal
Multiple daily insulin regimen using insulin glargine in type 1 diabetic Saudi children.
Saudi medical journal 2006;27(2):262-4.
2006: Imad N Kanaan; Nadia A Sakati; Faisal Otaibi
Type I congenital multiple intraspinal extradural cysts associated with distichiasis and lymphedema syndrome.
Surgical neurology 2006;65(2):162-6.
2005: Sulaiman M Al-Mayouf; A AlMehaidib; Sultan A Bahabri; S Shabib; Nadia A Sakati; Ahmad S Teebi
Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs.
Clinical and experimental rheumatology 2005;23(5):717-20.
2005: Eissa Faqeih; Nadia A Sakati; Ahmad S Teebi
Meier-Gorlin (ear-patella-short stature) syndrome: growth hormone deficiency and previously unrecognized findings.
American journal of medical genetics. Part A 2005;137A(3):339-41.
2005: Bassam S Bin-Abbas; Nadia A Sakati; Hussein Raef; Abdullah A Al-Ashwal
Continuous subcutaneous insulin infusion in type 1 diabetic Saudi children. A comparison with conventional insulin therapy.
Saudi medical journal 2005;26(6):918-22.
2005: Pinar T Ozand; Ali Al Odaib; Nadia A Sakati; Ali M Al-Hellani
Recently available techniques applicable to genetic problems in the Middle East.
Community genetics 2005;8(1):44-7.
2004: Bassam S Bin-Abbas; Abdullah A Al-Ashwal; Zayed S Al-Zayed; Nadia A Sakati
Radiological features of bisphosphonate therapy in children with osteogenesis imperfecta.
Saudi medical journal 2004;25(11):1772-3.
2004: Bassam S Bin-Abbas; Abdullah A Al-Ashwal; Ibrahim A Al-Alwan; Mohammad H Al-Qahtani; Angham N Al-Mutair; Nadia A Sakati
The syndrome of septo-optic dysplasia in Saudi children.
Saudi medical journal 2004;25(11):1675-8.
2004: Ali Hellani; Serdar Coskun; Moncef Benkhalifa; Abdelghani Tbakhi; Nadia A Sakati; Ali N Al Odaib; Pinar T Ozand
Multiple displacement amplification on single cell and possible PGD applications.
Molecular human reproduction 2004;10(11):847-52.
2004: Angham N Al-Mutair; M Anwar Iqbal; Nadia A Sakati; Abdullah Ashwal
Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients.
Annals of Saudi medicine 2004;24(5):368-72.
2004: Bassam S Bin-Abbas; Nadia A Sakati; Abdullah A Al-Ashwal
Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase type II deficiency in 4 Saudi children. Long term follow up.
Saudi medical journal 2004;25(9):1293-5.
2003: Abdullah A Al-Ashwal; Souheil M Shabib; Nadia A Sakati; Najya A Attia
Prevalence and characteristics of celiac disease in type I diabetes mellitus in Saudi Arabia.
Saudi medical journal 2003;24(10):1113-5.
2003: Bassam S Bin-Abbas; Abdulmohsen N Al-Mulhim; Nadia A Sakati; Abdullah A Al-Ashwal
Persistent hyperinsulinemic hypoglycemia of infancy in 38 children.
Saudi medical journal 2003;24(8):890-4.
2002: Hanaa H Banjar; Nadia A Sakati
Diabetes mellitus and cystic fibrosis in 2 Saudi siblings.
Saudi medical journal 2002;23(12):1541-5.
2002: Ruti Parvari; Eli Hershkovitz; Nili Grossman; Rafael Gorodischer; Bart Loeys; Alexandra Zecic; Geert R Mortier; Simon Gregory; Ram Sharony; Marios Kambouris; Nadia A Sakati; Brian F Meyer; Aida I Al Aqeel; Abdul Karim Al Humaidan; Fatma Al Zanhrani; Abdulrahman Alswaid; Johara Al Othman; George A Diaz; Rory Weiner; K Tahseen S Khan; Ronald Gordon; Bruce D Gelb
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Nature genetics 2002;32(3):448-52.
2002: Mohammad Awad; Abdullah A Al-Ashwal; Nadia A Sakati; ABBAS ALABBAD; Bassam S Bin-Abbas
Long-term follow up of carbonic anhydrase II deficiency syndrome.
Saudi medical journal 2002;23(1):25-9.
2001: Bassam S Bin-Abbas; H Mawlawi; Nadia A Sakati; Y Khafaja; M A Chaudhary; Abdullah A Al-Ashwal
Endocrine sequelae of childhood craniopharyngioma.
Journal of pediatric endocrinology & metabolism : JPEM 2001;14(7):869-74.
2000: M Anwar Iqbal; Nadia A Sakati; M Nester; Pinar T Ozand
Cytogenetic diagnosis of fragile X syndrome: study of 305 suspected cases in Saudi Arabia.
Annals of Saudi medicine 2000;20(3-4):214-7.
2000: Mazen Al-Essa; Nadia A Sakati; Siema M Bakheet; Zoltan Patay; Omar Dabbagh; E Chaves-Carbello; Pinar T Ozand
X-linked adrenoleukodystrophy. The Saudi experience.
Saudi medical journal 2000;21(1):61-71.
2000: T E Kelly; S Blanton; R Saif; S A Sanjad; Nadia A Sakati
Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.
Journal of medical genetics 2000;37(1):63-4.
1999: M Anwar Iqbal; C Ulmer; Nadia A Sakati
Use of FISH technique in the diagnosis of chromosomal syndromes.
Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-ṣiḥḥīyah li-sharq al-mutawassiṭ 1999;5(6):1218-24.
1999: George A Diaz; Bruce D Gelb; F Ali; Nadia A Sakati; Sami A Sanjad; Brian F Meyer; Marios Kambouris
Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.
American journal of medical genetics 1999;85(1):48-52.
1999: Emtethal Al-Jishi; Brian F Meyer; Mohamed S Rashed; Mazen Al-Essa; Mohamed Al-Hamed; Nadia A Sakati; Sami A Sanjad; Pinar T Ozand; Marios Kambouris
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
Clinical genetics 1999;55(6):444-9.
1998: LA al-Shamsan; Mazen Al-Essa; Angham N Al-Mutair; Abdullah A Al-Ashwal; Nadia A Sakati; Pinar T Ozand
Hyperinsulinism and hyperammonaemia.
Journal of inherited metabolic disease 1998;21(6):671-3.
1998: Mazen Al-Essa; Nadia A Sakati; Omar Dabbagh; S Joshi; Emtethal Al-Jishi; Mohamed S Rashed; JE Powe; Pinar T Ozand
Inborn error of vitamin B12 metabolism: a treatable cause of childhood dementia/paralysis.
Journal of child neurology 1998;13(5):239-43.
1998: Mazen Al-Essa; R Nounou; Nadia A Sakati; G Le Quesne; S Joshi; A Archibald; Pinar T Ozand
Wolman's disease: The King Faisal Specialist Hospital and Research Centre experience.
Annals of Saudi medicine 1998;18(2):120-4.
1998: Najya A Attia; A Zahrani; R Saif; H A Kattan; Nadia A Sakati; Abdullah A Al-Ashwal; William V Tamborlane
Different faces of non-autoimmune diabetes of infancy.
Acta paediatrica (Oslo, Norway : 1992) 1998;87(1):95-7.
1997: Najya A Attia; R Saif; Abdullah A Al-Ashwal; Nadia A Sakati; C Dolinski; W V Tamborlane
Feasibility of applying recommendations from the diabetes control and complications trial to Saudi adolescents with insulin-dependent diabetes.
Annals of Saudi medicine 1997;17(6):659-61.
1997: Nadia A Sakati
Book review: genetic disorders among arab population.
Annals of Saudi medicine 1997;17(4):492.
1997: M Anwar Iqbal; M Z Ahmed; D Wu; Nadia A Sakati
A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature.
American journal of medical genetics 1997;70(2):174-8.
1997: V Sripathi; S Ahmed; Nadia A Sakati; Abdullah A Al-Ashwal
Gender reversal in 46XX congenital virilizing adrenal hyperplasia.
British journal of urology 1997;79(5):785-9.
1996: T E Kelly; R Al-Saif; Najya A Attia; Abdullah A Al-Ashwal; Nadia A Sakati
The genetics of the human growth hormone axis and associated dwarfing disorders.
Annals of Saudi medicine 1996;16(4):430-7.
1996: N U Lin; Peter J Malloy; Nadia A Sakati; Abdullah A Al-Ashwal; David Feldman
A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.
The Journal of clinical endocrinology and metabolism 1996;81(7):2564-9.
1996: W V Tamborlane; Najya A Attia; R Saif; Nadia A Sakati; Abdullah A Al-Ashwal
Impact of the diabetes control and complications trial (DCCT) on management of insulin-dependent diabetes mellitus: A pediatric perspective.
Annals of Saudi medicine 1996;16(1):64-8.
1996: Najya A Attia; Nadia A Sakati; Abdullah A Al-Ashwal; R al Saif; Mohamed S Rashed; Pinar T Ozand
Isovaleric acidemia appearing as diabetic ketoacidosis.
Journal of inherited metabolic disease 1996;19(1):85-6.
1995: Hassan Solh; A M Da Cunha; N Giri; A Padmos; D Spence; H Clink; P Ernst; Nadia A Sakati
Bone marrow transplantation for infantile malignant osteopetrosis.
Journal of pediatric hematology/oncology 1995;17(4):350-5.
1995: A Al-Rabeeah; Abdullah A Al-Ashwal; Abdullah S Al-Herbish; Nasir A Al-Jurayyan; Nadia A Sakati; A Abobakr
Persistent hyperinsulinemic hypoglycemia of infancy: experience with 28 cases.
Journal of pediatric surgery 1995;30(8):1119-21.
1994: Pinar T Ozand; Mohamed S Rashed; D S Millington; Nadia A Sakati; SELWA AL-HAZZAA; Zuhair Rahbeeni; A al Odaib; N Youssef; A Mazrou; G G Gascon
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy.
Brain & development 1994;16 Suppl():12-22.
1993: Sami A Sanjad; R E Kaddoura; H M Nazer; M Akhtar; Nadia A Sakati
Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.
American journal of diseases of children (1960) 1993;147(9):957-9.
1992: A al Aqeel; Pinar T Ozand; J Brismar; G G Gascon; G Brismar; M Nester; Nadia A Sakati
Saudi variant of multiple sulfatase deficiency.
Journal of child neurology 1992;7 Suppl():S12-21.
1992: M J Nester; Nadia A Sakati; W Greer
Unknown dysmorphic syndromes and development delay in Saudi Arabia.
Journal of child neurology 1992;7 Suppl():S64-8.
1991: S Shebib; Claes Hugosson; Nadia A Sakati; William Nyhan
Osteodysplastic variant of primordial dwarfism.
American journal of medical genetics 1991;40(2):146-50.
1991: Sami A Sanjad; Nadia A Sakati; Y K Abu-Osba; R Kaddoura; R D Milner
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.
Archives of disease in childhood 1991;66(2):193-6.
1990: H Nazer; T S Gunasekaran; Nadia A Sakati; William Nyhan
Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins.
American journal of medical genetics 1990;37(4):516-8.
1989: H Nazer; E Riff; Nadia A Sakati; R Mathew; MAJEED-SAIDAN MUHAMMAD ALI; HA Harfi
Cystic fibrosis in Saudi Arabia.
European journal of pediatrics 1989;148(4):330-2.
1989: M Ahmed; M Banna; Nadia A Sakati; N Woodhouse
Pituitary gland enlargement in primary hypothyroidism: a report of 5 cases with follow-up data.
Hormone research 1989;32(5-6):188-92.
1987: P Kansal; Nadia A Sakati; A Rifai; N Woodhouse
Lingual thyroid. Diagnosis and treatment.
Archives of internal medicine 1987;147(11):2046-8.
1987: J S Tsung; H Nazer; Nadia A Sakati; M A Ali
Early diagnosis of presymptomatic Wilson's disease.
Indiana medicine : the journal of the Indiana State Medical Association 1987;80(6):542-4.
1987: Nabil K Bissada; Nadia A Sakati; N J Woodhouse; R R Morcos
One-stage complete genital reconstruction for patients with congenital adrenal hyperplasia.
The Journal of urology 1987;137(4):703-5.
1986: Nabil K Bissada; W A Cumming; Nadia A Sakati; K A Hanash; J W Ratcliffe
Crossed ectopia of a solitary kidney associated with anal atresia.
Southern medical journal 1986;79(5):648-9.
1986: Nadia A Sakati; N J Woodhouse; N Niles; HA Harfi; D A de Grange; S Marx
Hereditary resistance to 1,25-dihydroxyvitamin D: clinical and radiological improvement during high-dose oral calcium therapy.
Hormone research 1986;24(4):280-7.
1985: K Sackey; Nadia A Sakati; R J Aur; S Shebib; R S Sabbah; S Rifai
Multiple dysmorphic features and pancytopenia: a new syndrome?
Clinical genetics 1985;27(6):606-10.
1983: N J Woodhouse; Nadia A Sakati
A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.
Journal of medical genetics 1983;20(3):216-9.