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1

Munchausen syndrome by proxy mimicking as Gaucher disease

Mohammed Al-Owain, Hamad Al-Zaidan, Amal Al-Hashem, Hoda Kattan, Abdullah Al-Dowaish

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 110 KB

english, 2010

2

Inherited metabolic disorders in adults: A view from Saudi Arabia

Sulaiman, Raashda A., Al-Owain, Mohammed

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

3

Genomic and phenotypic delineation of congenital microcephaly

Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel,

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 3.95 MB

english, 2018

4

A novel X-linked disorder with developmental delay and autistic features

Namik Kaya, Dilek Colak, Albandary Albakheet, Mohammad Al-Owain, Nada Abu-Dheim, Banan Al-Younes, Jawaher Al-Zahrani, Nahit M. Mukaddes, Aysin Dervent, Naji Al-Dosari, Ali Al-Odaib, Inci V. Kayaalp, M

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 1.37 MB

english, 2012

5

Twenty novel mutations in BCKDHA , BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad,

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 801 KB

english, 2017

6

Mutations in Known Disease Genes Account for the Majority of Autosomal Recessive Retinal Dystrophies

Patel, Nisha, Alkuraya, Hisham, Alzahrani, Shahad Sharaf, Nowilaty, Sawsan R., Seidahmed, Mohammed Zain, Alhomedan, Amal, Ben-Omran, Tawfeg, Ghazi, Nicola G., Al-Aqeel, Aida, Al-Owain, Mohammed, Alzai

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.11 MB

english, 2018

7

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Mohammed Al-Owain, Sarar Mohamed, Namik Kaya, Ahmad Zagal, Gert Matthijs, Jaak Jaeken

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 540 KB

english, 2010

8

Visual Diagnosis: A Child Who Has Hyperpigmented Spots and a Forearm Deformity

Al-Owain, M., Faden, M., Chedrawi, A.

Journal:

Pediatrics in Review

Year:

2009

Language:

english

File:

PDF, 768 KB

english, 2009

9

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Cullup, Thomas, Kho, Ay Lin, Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A, Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan,

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 1.17 MB

english, 2012

10

Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

Lahoria, Rajat, Winder, Thomas L., Lui, Jie, Al-Owain, Mohammed A., Milone, Margherita

Journal:

Year:

2014

Language:

english

File:

PDF, 144 KB

english, 2014

11

Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D

Shaheen, R., Al-Owain, M., Khan, A.O., Zaki, M.S., Hossni, H.A.A., Al-Tassan, R., Eyaid, W., Alkuraya, F.S.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 784 KB

english, 2014

12

EPG5 -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohamme

Journal:

Year:

2016

Language:

english

File:

PDF, 1.49 MB

english, 2016

13

Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

Mohammed Al-Owain, Hamad Al-Zaidan, Zuhair Al-Hassnan

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 241 KB

english, 2012

14

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

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,

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 623 KB

english, 2018

15

Autism Spectrum Disorders and Inborn Errors of Metabolism: An Update

Ghaziuddin, Mohammad, Al-Owain, Mohammed

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 212 KB

english, 2013

16

Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS

Osama Y. Al-Dirbashi, Mohamed S. Rashed, Minnie Jacob, Lujane Y. Al-Ahaideb, Mohamed Al-Amoudi, Zuhair Rahbeeni, Moeen M. Al-Sayed, Zuhair Al-Hassnan, Mohamed Al-Owain, Hamad Al-Zeidan

Journal:

Biomedical Chromatography

Year:

2008

Language:

english

File:

PDF, 125 KB

english, 2008

17

NovelFBP1gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

Muhammad Faiyaz-Ul-Haque, Mohammed Al-Owain, Fouad Al-Dayel, Zuhair Al-Hassnan, Hamad Al-Zaidan, Zuhair Rahbeeni, Moeen Al-Sayed, Ameera Balobaid, Ahmad Cluntun, Mohamed Toulimat, Hala Abalkhail, Iskr

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 174 KB

english, 2009

18

Sphingolipid Activator Protein B Deficiency: Report of 9 Saudi Patients and Review of the Literature

Al-Hassnan, Z. N., Al Dhalaan, H., Patay, Z., Faqeih, E., Al-Owain, M., Al-Duraihem, A., Faiyaz-Ul-Haque, M.

Journal:

Journal of Child Neurology

Year:

2009

Language:

english

File:

PDF, 381 KB

english, 2009

19

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

Al-Hashmi, Nadia, Imtiaz, Faiqa, Ramzan, Khushnooda, Faden, Maha, Shuaib, Taghreed, Al-Otaibi, Lefian, Al-Hemidan, Amal, Al-Owain, Mohammed

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 296 KB

english, 2013

20

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

Aldahmesh, Mohammed A, Khan, Arif O, Mohamed, Jawahir Y, Hijazi, Hadia, Al-Owain, Mohammed, Alswaid, Abdulrahman, Alkuraya, Fowzan S

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 525 KB

english, 2012

21

Growth Hormone Deficiency Associated with Methylmalonic Acidemia

Al-Owain, M., Freehauf, C., Bernstein, L., Kappy, M., Thomas, J.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2004

Language:

english

File:

PDF, 1.43 MB

english, 2004

22

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Monies, Dorota, Maddirevula, Sateesh, Kurdi, Wesam, Alanazy, Mohammed H., Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A., Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, Abdulwahab, Firdous,

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 1.15 MB

english, 2017

23

Progressive Sclerodermatous Skin Changes in a Child with Phenylketonuria

Sulaiman M. Al-Mayouf, Mohammed A. Al-Owain

Journal:

Pediatric Dermatology

Year:

2006

Language:

english

File:

PDF, 70 KB

english, 2006

24

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

Ranad Shaheen, Mohammed Al-Owain, Nadia Sakati, Zayed S. Alzayed, Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 230 KB

english, 2010

25

Smith–Lemli–Opitz syndrome among Arabs

M Al-Owain, F Imtiaz, T Shuaib, A Edrees, M Al-Amoudi, N Sakati, Z Al-Hassnan, H Bamashmous, Z Rahbeeni, S Al-Ameer, E Faqeih, B Meyer, A Al-Hashem, W Garout, A Al-Odaib, M Rashed, JY Al-Aama

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 637 KB

english, 2012

26

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Al-Mayouf, Sulaiman M, Sunker, Asma, Abdwani, Reem, Abrawi, Safiya Al, Almurshedi, Fathiya, Alhashmi, Nadia, Al Sonbul, Abdullah, Sewairi, Wafaa, Qari, Aliya, Abdallah, Eiman, Al-Owain, Mohammed, Al M

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 521 KB

english, 2011

27

Muscle Phosphofructokinase Deficiency With Neonatal Seizures and Nonprogressive Course

Al-Hassnan, Z. N., Mustafa Al Budhaim,, Al-Owain, M., Lach, B., Al-Dhalaan, H.

Journal:

Journal of Child Neurology

Year:

2007

Language:

english

File:

PDF, 50 KB

english, 2007

28

Two novelLHX3mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss

Ramzan, Khushnooda, Bin-Abbas, Bassam, Al-Jomaa, Lolwa, Allam, Rabab, Al-Owain, Mohammed, Imtiaz, Faiqa

Journal:

BMC Endocrine Disorders

Year:

2017

Language:

english

File:

PDF, 3.19 MB

english, 2017

29

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

Al-Ashwal, Abdullah A., Al-Sagheir, Afaf, Ramzan, Khushnooda, Al-Owain, Mohammed, Allam, Rabab, Qari, Alya, Al-Numair, Nouf S., Imtiaz, Faiqa

Journal:

Hormone Research in Paediatrics

Year:

2017

Language:

english

File:

PDF, 396 KB

english, 2017

30

Clinical and biochemical features associated withBCS1Lmutation

Al-Owain, Mohammed, Colak, Dilek, Albakheet, Albandary, Al-Younes, Banan, Al-Humaidi, Zainab, Al-Sayed, Moeen, Al-Hindi, Hindi, Al-Sugair, Abdulaziz, Al-Muhaideb, Ahmed, Rahbeeni, Zuhair, Al-Sehli, Ab

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 694 KB

english, 2013

31

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance

M Al-Owain, N Kaya, H Al-Zaidan, N Al-Hashmi, A Al-Bakheet, M Al-Muhaizea, A Chedrawi, RK Basran, A Milunsky

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 673 KB

english, 2011

32

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Alt

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.18 MB

english, 2018

33

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene

Khalifa, O., Imtiaz, F., Allam, R., Al-Hassnan, Z., Al-Hemidan, A., Al-Mane, K., Abuharb, G., Balobaid, A., Sakati, N., Hyland, J., Al-Owain, M.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 325 KB

english, 2012

34

Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia

Namik Kaya, Mohammad Al-Owain, AlBandary AlBakheet, Dilek Colak, Ali Al-Odaib, Faiqa Imtiaz, Serdar Coskun, Moeenaldeen Al-Sayed, Zuhair Al-Hassnan, Hamad Al-Zaidan, Brian Meyer, Pinar Ozand

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 337 KB

english, 2008

35

Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease

Kaya, Namik, Imtiaz, Faiqa, Colak, Dilek, Al-Sayed, Moeenaldeen, Al-Odaib, Ali, Al-Zahrani, Fatma, Al-Mubarak, Bashayer R, Al-Owain, Mohammad, Al-Dhalaan, Hesham, Chedrawi, Aziza, Al-Hassnan, Zuhair,

Journal:

Genetics in Medicine

Year:

2008

Language:

english

File:

PDF, 304 KB

english, 2008

36

CORRIGENDUM: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Monies, Dorota, Maddirevula, Sateesh, Kurdi, Wesam, Alanazy, Mohammed H, Alkhalidi, Hisham, Al-Owain, Mohammed, Sulaiman, Raashda A, Faqeih, Eissa, Goljan, Ewa, Ibrahim, Niema, Abdulwahab, Firdous, Ha

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

37

Vici syndrome associated with unilateral lung hypoplasia and myopathy

Mohammed Al-Owain, Amal Al-Hashem, Mohammed Al-Muhaizea, Hani Humaidan, Hindi Al-Hindi, Iftetah Al-Homoud, Ibrahim Al-Mogarri

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 279 KB

english, 2010

38

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

Anas M. Alazami, Mohammad Al-Owain, Fatema Alzahrani, Taghreed Shuaib, Hussain Al-Shamrani, Yahya H. Al-Falki, Saleh M. Al-Qahtani, Tarfa Alsheddi, Dilek Colak, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 292 KB

english, 2012

39

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin

Faiqa Imtiaz, Mohamed S. Rashed, Bashayer Al-Mubarak, Rabab Allam, Hanaa El-Karaksy, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Zuhair Rahbeeni, Alya Qari, Brian F. Meyer, Moeen Al-Sayed

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 143 KB

english, 2011

40

Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways

Dilek Colak, Hesham Al-Dhalaan, Michael Nester, AlBandary AlBakheet, Banan Al-Younes, Zohair Al-Hassnan, Mohammad Al-Dosari, Aziza Chedrawi, Muhammad Al-Owain, Nada AbuDheim, Laila Al-Alwan, Ali Al-Od

Journal:

Year:

2011

Language:

english

File:

PDF, 1.31 MB

english, 2011

41

Genetic Investigation of 93 Families with Microphthalmia or Posterior Microphthalmos

Patel, N., Khan, A.O., Alsahli, S., Abdel-Salam, G., Nowilaty, S.R., Mansour, A.M., Nabil, A., Al-Owain, M., Sogati, S., Salih, M.A., Kamal, A.M., Alsharif, H., Alsaif, H., Alzahrani, S.S., Abdulwahab

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 2.72 MB

english, 2018

42

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

SHE Zaidi, M Faiyaz-Ul-Haque, T Shuaib, A Balobaid, Z Rahbeeni, H Abalkhail, A Al-Abdullatif, Z Al-Hassnan, I Peltekova, M Al-Owain

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 654 KB

english, 2012

43

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghr

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 2.24 MB

english, 2019

44

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans

Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Al-Owain, Mohammed, Tohary, Mohamed, AlSayed, Moeenaldeen, Mahnashi, Mohammed, Fathi, Lana, Alnemer, Maha, Al-Hamed, Mohamed H., Lemire, Gabriell

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 77 KB

2020

45

Novel homozygous mutation in DSP causing skin fragility–woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes

M Al-Owain, S Wakil, F Shareef, A Al-Fatani, E Hamadah, M Haider, H Al-Hindi, A Awaji, O Khalifa, B Baz, R Ramadhan, B Meyer

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 875 KB

english, 2011

46

Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection

Osama Y. Al-Dirbashi, Minnie Jacob, Lujane Y. Al-Ahaidib, Khaled Al-Qahtani, Zuhair Rahbeeni, M. Al-Owain, Mohamed S. Rashed

Journal:

Clinica Chimica Acta

Year:

2006

Language:

english

File:

PDF, 110 KB

english, 2006

47

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

Shaheen, R., Alazami, A. M., Alshammari, M. J., Faqeih, E., Alhashmi, N., Mousa, N., Alsinani, A., Ansari, S., Alzahrani, F., Al-Owain, M., Alzayed, Z. S., Alkuraya, F. S.

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 491 KB

english, 2012

48

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

Puel, A., Doffinger, R., Natividad, A., Chrabieh, M., Barcenas-Morales, G., Picard, C., Cobat, A., Ouachee-Chardin, M., Toulon, A., Bustamante, J., Al-Muhsen, S., Al-Owain, M., Arkwright, P. D., Costi

Journal:

Journal of Experimental Medicine

Year:

2010

Language:

english

File:

PDF, 1.22 MB

english, 2010

49

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Almutairi, Fuad, Moghr

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 2.24 MB

2019

50

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy

Sulaiman, Raashda Ainuddin, Shaheen, Marwan Yassin, Al-Zaidan, Hamad, Al-Hassnan, Zuhair, Al-Sayed, Moeenaldeen, Rahbeeni, Zuhair, Bakshi, Nasir Ahmed, Kaya, Namik, Aldosary, Mazhor, Al-Owain, Mohamme

Journal:

Intractable & Rare Diseases Research

Year:

2016

Language:

english

File:

PDF, 421 KB

english, 2016

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