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Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy.
Published in:
Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/6143050
By:
- Al-Qattan, Mohammad M.;
- Rahbeeni, Zuhair A.;
- Al-Hassnan, Zuhair N.;
- Jarman, Abdulaziz;
- Rafique, Atif;
- Mahabbat, Nehal;
- Alsufayan, Faris A. S.
Publication type:
Article
Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 59, doi. 10.1002/ajmg.a.63402
By:
- Tulbah, Sahar;
- Alruwaili, Nadiah;
- Alhashem, Amal;
- Aljohany, Arwa;
- Alhadeq, Faten;
- Brotons, Dimpna C. Albert;
- Alwadai, Abdullah;
- Al‐Hassnan, Zuhair N.
Publication type:
Article
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615
By:
- Alrakaf, Laila;
- Al‐Owain, Mohammed A.;
- Busehail, Maryam;
- Alotaibi, Maha A.;
- Monies, Dorota;
- Aldhalaan, Hesham M.;
- Alhashem, Amal;
- Al‐Hassnan, Zuhair N.;
- Rahbeeni, Zuhair A.;
- Murshedi, Fathiya Al;
- Ani, Nadia Al;
- Al‐Maawali, Almundher;
- Ibrahim, Niema A.;
- Abdulwahab, Firdous M.;
- Alsagob, Maysoon;
- Hashem, Mais O.;
- Ramadan, Wafaa;
- Abouelhoda, Mohamed;
- Meyer, Brian F.;
- Kaya, Namik
Publication type:
Article
A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3128, doi. 10.1002/ajmg.a.34298
By:
- Al-Hassnan, Zuhair N.;
- Al-Bakheet, AlBandary;
- Abu-Dheim, Nada;
- Al-Younes, Banan;
- Colak, Dilek;
- Kaya, Namik
Publication type:
Article
Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry.
Published in:
Analytical & Bioanalytical Chemistry, 2006, v. 386, n. 7/8, p. 2013, doi. 10.1007/s00216-006-0831-5
By:
- Al-Dirbashi, Osama Y.;
- Al-Hassnan, Zuhair N.;
- Rashed, Mohamed S.
Publication type:
Article
Identifying new genetic causes of pediatric cardiomyopathy by exome sequencing and zebrafish modeling.
Published in:
Cardiology in the Young, 2022, v. 32, p. S3
By:
- Ruijmbeek, Claudine W. B.;
- Van Der Linde, Herma C.;
- Al Hassnan, Zuhair N.;
- Dalinghaus, Michiel;
- Van Den Bersselaar, Lisa M.;
- Van De Laar, Ingrid M. B. H.;
- Van Ham, Tjakko J.;
- Verhagen, Judith M. A.
Publication type:
Article
Identifying new genetic causes of pediatric cardiomyopathy by exome sequencing and zebrafish modeling.
Published in:
Cardiology in the Young, 2022, v. 32, n. S2, p. S3, doi. 10.1017/S1047951122001950
By:
- Ruijmbeek, Claudine W. B.;
- Van Der Linde, Herma C.;
- Al Hassnan, Zuhair N.;
- Dalinghaus, Michiel;
- Van Den Bersselaar, Lisa M.;
- Van De Laar, Ingrid M. B. H.;
- Van Ham, Tjakko J.;
- Verhagen, Judith M. A.
Publication type:
Article
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
Published in:
European Heart Journal, 2019, v. 40, n. 35, p. 2964, doi. 10.1093/eurheartj/ehz311
By:
- Crotti, Lia;
- Spazzolini, Carla;
- Tester, David J;
- Ghidoni, Alice;
- Baruteau, Alban-Elouen;
- Beckmann, Britt-Maria;
- Behr, Elijah R;
- Bennett, Jeffrey S;
- Bezzina, Connie R;
- Bhuiyan, Zahurul A;
- Celiker, Alpay;
- Cerrone, Marina;
- Dagradi, Federica;
- Ferrari, Gaetano M De;
- Etheridge, Susan P;
- Fatah, Meena;
- Garcia-Pavia, Pablo;
- Al-Ghamdi, Saleh;
- Hamilton, Robert M;
- Al-Hassnan, Zuhair N
Publication type:
Article
The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.
Published in:
Cardiology, 2017, v. 137, n. 3, p. 188, doi. 10.1159/000465516
By:
- Shinwari, Zarghuna M.a.;
- almesned, abdulrahman;
- alakhfash, ali;
- al-Rashdan, ahmad M.;
- Faqeih, Eissa;
- al-Humaidi, Zainab;
- alomrani, ahmed;
- alghamdi, Malak;
- Colak, Dilek;
- alwadai, abdullah;
- Rababh, Monther;
- al-Fayyadh, Majid;
- al-Hassnan, Zuhair N.
Publication type:
Article
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0747-5
By:
- Al-Qattan, Mohammad M.;
- Jarman, Abdulaziz;
- Rafique, Atif;
- Al-Hassnan, Zuhair N.;
- Al-Qattan, Heba M.
Publication type:
Article
Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.
Published in:
2021
By:
- Alghamdi, Malak A.;
- Tohary, Mohammed;
- Alzaidan, Hamad;
- Imtiaz, Faiqa;
- Al‐Hassnan, Zuhair N.
Publication type:
Case Study
A novel homozygous SCN5A variant detected in sick sinus syndrome.
Published in:
Pacing & Clinical Electrophysiology, 2021, v. 44, n. 2, p. 380, doi. 10.1111/pace.14077
By:
- Alkorashy, Maarab;
- Al‐Ghamdi, Bandar;
- Tulbah, Sahar;
- Al‐Numair, Nouf S.;
- Alhadeq, Faten;
- A Takroni, Saud;
- Al‐Hassnan, Zuhair N.
Publication type:
Article
The Phenotype of a CASQ2 Mutation in a Saudi Family with Catecholaminergic Polymorphic Ventricular Tachycardia.
Published in:
Pacing & Clinical Electrophysiology, 2013, v. 36, n. 5, p. e140, doi. 10.1111/j.1540-8159.2012.03434.x
By:
- AL‐HASSNAN, ZUHAIR N.;
- TULBAH, SAHAR;
- AL‐MANEA, WALEED;
- AL‐FAYYADH, MAJID
Publication type:
Article
Association of Myocardial Muscle Non-Compaction and Multiple Ventricular Septal Defects by Echocardiography.
Published in:
Pediatric Cardiology, 2022, v. 43, n. 6, p. 1373, doi. 10.1007/s00246-022-02861-9
By:
- AlFadley, Fadel;
- Abdelbaky, Naheel;
- Alhabdan, Mohammed;
- Issa, Ziad;
- Yansaneh, Abdulai;
- Al-Hassnan, Zuhair N.;
- Albert-Brotons, Dimpna C.
Publication type:
Article
Molecular Dynamics Simulation Reveals Exposed Residues in the Ligand-Binding Domain of the Low-Density Lipoprotein Receptor that Interacts with Vesicular Stomatitis Virus-G Envelope.
Published in:
Viruses (1999-4915), 2019, v. 11, n. 11, p. 1063, doi. 10.3390/v11111063
By:
- Al-Allaf, Faisal A.;
- Abduljaleel, Zainularifeen;
- Taher, Mohiuddin M.;
- Abdellatif, Ahmed A. H.;
- Athar, Mohammad;
- Bogari, Neda M.;
- Al-Ahdal, Mohammed N.;
- Al-Mohanna, Futwan;
- Al-Hassnan, Zuhair N.;
- Alzabeedi, Kamal H. Y.;
- Banssir, Talib M.;
- Bouazzaoui, Abdellatif
Publication type:
Article
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Published in:
Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
By:
- Alshenaifi, Jumanah;
- Ewida, Nour;
- Anazi, Shams;
- Shamseldin, Hanan E.;
- Patel, Nisha;
- Maddirevula, Sateesh;
- Al‐Sheddi, Tarfa;
- Alomar, Rana;
- Alobeid, Eman;
- Ibrahim, Niema;
- Hashem, Mais;
- Abdulwahab, Firdous;
- Jacob, Minnie;
- Alhashem, Amal;
- Alzaidan, Hamad I.;
- Seidahmed, Mohammed Z.;
- Alhashemi, Nadia;
- Rawashdeh, Rifaat;
- Eyaid, Wafaa;
- Al‐Hassnan, Zuhair N.
Publication type:
Article
Medium‐chain acyl‐CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 263, doi. 10.1007/s10545-010-9143-1
By:
- Al‐Hassnan, Zuhair N.;
- Imtiaz, Faiqa;
- Al‐Amoudi, Mohamed;
- Rahbeeni, Zuhair;
- Al‐Sayed, Moeen;
- Al‐Owain, Mohammed;
- Al‐Zaidan, Hamad;
- Al‐Odaib, Ali;
- Rashed, Mohamed S.
Publication type:
Article
Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Published in:
Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0356-6
By:
- Al-Hassnan, Zuhair N.;
- Albawardi, Waad;
- Almutairi, Faten;
- AlMass, Rawan;
- AlBakheet, Albandary;
- Mustafa, Osama M.;
- AlQuait, Laila;
- Shinwari, Zarghuna M. A.;
- Wakil, Salma;
- Salih, Mustafa A.;
- Al-Fayyadh, Majid;
- Hassan, Saeed M.;
- Aljoufan, Mansour;
- Al-Nakhli, Osima;
- Levy, Brynn;
- AlMaarik, Balsam;
- Al-Hakami, Hana A.;
- Alsagob, Maysoon;
- Colak, Dilek;
- Kaya, Namik
Publication type:
Article
A complex unit for a complex disease: the HCM-Family Unit.
Published in:
Monaldi Archives for Chest Disease, 2022, v. 92, n. 3, p. 1, doi. 10.4081/monaldi.2021.2147
By:
- Vriz, Olga;
- AlSergani, Hani;
- Elshaer, Ahmed Nahid;
- Shaik, Abdullah;
- Mushtaq, Ali Hassan;
- Lioncino, Michele;
- Alamro, Bandar;
- Monda, Emanuele;
- Caiazza, Martina;
- Russo, Giuseppe;
- Mauro, Ciro;
- Bossone, Eduardo;
- Al-Hassnan, Zuhair N.;
- Albert-Brotons, Dimpna;
- Limongelli, Giuseppe
Publication type:
Article
Sphingolipid Activator Protein B Deficiency: Report of 9 Saudi Patients and Review of the Literature.
Published in:
Journal of Child Neurology, 2009, v. 24, n. 12, p. 1513, doi. 10.1177/0883073809341269
By:
- Al-Hassnan, Zuhair N.;
- Al Dhalaan, Hesham;
- Patay, Zoltan;
- Faqeih, Eissa;
- Al-Owain, Mohammed;
- Al-Duraihem, Adel;
- Faiyaz-Ul-Haque, Mohammed
Publication type:
Article
Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease.
Published in:
Journal of Child Neurology, 2008, v. 23, n. 9, p. 1043, doi. 10.1177/0883073808318062
By:
- Chedrawi, Aziza K.;
- Ali, Ayman;
- Al Hassnan, Zuhair N.;
- Faiyaz-Ul-Haque, Muhammad;
- Wolf, Barry
Publication type:
Article
Muscle Phosphofructokinase Deficiency With Neonatal Seizures and Nonprogressive Course.
Published in:
Journal of Child Neurology, 2007, v. 22, n. 1, p. 106, doi. 10.1177/0883073807299968
By:
- Al-Hassnan, Zuhair N.;
- Al Budhaim, Mustafa;
- Al-Owain, Mohammed;
- Lach, Boleslaw;
- Al-Dhalaan, Hesham
Publication type:
Article
Molecular and clinical spectra of FBXL4 deficiency.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1649, doi. 10.1002/humu.23341
By:
- El-Hattab, Ayman W.;
- Dai, Hongzheng;
- Almannai, Mohammed;
- Wang, Julia;
- Faqeih, Eissa A.;
- Al Asmari, Ali;
- Saleh, Mohammed A. M.;
- Elamin, Mohammed A. O.;
- Alfadhel, Majid;
- Alkuraya, Fowzan S.;
- Hashem, Mais;
- Aldosary, Mazhor S.;
- Almass, Rawan;
- Almutairi, Faten B.;
- Alsagob, Maysoon;
- Al-Owain, Mohammed;
- Al-Sharfa, Shirin;
- Al-Hassnan, Zuhair N.;
- Rahbeeni, Zuhair;
- Al-Muhaizea, Mohammed A.
Publication type:
Article
Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review.
Published in:
2021
By:
- Alakhfash, Ali;
- Alqwaiee, Abdullah;
- Almesned, Abdulrahman;
- Al-Hassnan, Zuhair N
Publication type:
Case Study
Guidelines for acute management of hyperammonemia in the Middle East region.
Published in:
2016
By:
- Alfadhel, Majid;
- Al Mutairi, Fuad;
- Makhseed, Nawal;
- Al Jasmi, Fatma;
- Al-Thihli, Khalid;
- Al-Jishi, Emtithal;
- Alsayed, Moeenaldeen;
- Al-Hassnan, Zuhair N.;
- Al-Murshedi, Fathiya;
- Häberle, Johannes;
- Ben-Omran, Tawfeg;
- Mutairi, Fuad Al;
- Jasmi, Fatma Al
Publication type:
journal article
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0267-5
By:
- Al-Hassnan, Zuhair N.;
- Shinwari, Zarghuna MA.;
- Wakil, Salma M.;
- Tulbah, Sahar;
- Mohammed, Shamayel;
- Rahbeeni, Zuhair;
- Alghamdi, Mohammed;
- Rababh, Monther;
- Colak, Dilek;
- Kaya, Namik;
- Al-Fayyadh, Majid;
- Alburaiki, Jehad
Publication type:
Article

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