Mohammed Al-Owain : rechercher sur Z-Library

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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

Année:

2010

Langue:

english

Fichier:

PDF, 110 KB

english, 2010

2

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

Année:

2018

Langue:

english

Fichier:

PDF, 3.95 MB

english, 2018

3

Inherited metabolic disorders in adults: A view from Saudi Arabia

Sulaiman, Raashda A., Al-Owain, Mohammed

Journal:

European Journal of Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2018

4

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

Année:

2012

Langue:

english

Fichier:

PDF, 241 KB

english, 2012

5

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

Année:

2010

Langue:

english

Fichier:

PDF, 540 KB

english, 2010

6

Autism Spectrum Disorders and Inborn Errors of Metabolism: An Update

Ghaziuddin, Mohammad, Al-Owain, Mohammed

Journal:

Pediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 212 KB

english, 2013

7

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:

Année:

2014

Langue:

english

Fichier:

PDF, 144 KB

english, 2014

8

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

Année:

2012

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2012

9

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

Année:

2017

Langue:

english

Fichier:

PDF, 801 KB

english, 2017

10

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

Année:

2018

Langue:

english

Fichier:

PDF, 623 KB

english, 2018

11

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

Année:

2018

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2018

12

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

Année:

2010

Langue:

english

Fichier:

PDF, 279 KB

english, 2010

13

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Ranad Shaheen, Mohammed Al-Owain, Eissa Faqeih, Nadia Al-Hashmi, Ali Awaji, Zayed Al-Zayed, Fowzan S Alkuraya

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 3.12 MB

english, 2011

14

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

Année:

2008

Langue:

english

Fichier:

PDF, 125 KB

english, 2008

15

Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia

Mohamed S. Rashed, Lujane Y. Al-Ahaidib, Osama Y. Al-Dirbashi, Mohammad Al Amoudi, Moeen M.A. Al-Sayed, Zuhair Rahbeeni, Zuhair Al-Hassnan, Abeer Al-Dbaas, Mohamed Al-Owain, Michelle Ni Luanaigh

Journal:

Analytical Biochemistry

Année:

2005

Langue:

english

Fichier:

PDF, 333 KB

english, 2005

16

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

Année:

2009

Langue:

english

Fichier:

PDF, 174 KB

english, 2009

17

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

Ola Khalifa, Faiqa Imtiaz, Nadia Al-Sakati, Khalid Al-Manea, Alain Verloes, Mohammed Al-Owain

Journal:

European Journal of Pediatrics

Année:

2011

Langue:

english

Fichier:

PDF, 360 KB

english, 2011

18

Progressive Sclerodermatous Skin Changes in a Child with Phenylketonuria

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

Journal:

Pediatric Dermatology

Année:

2006

Langue:

english

Fichier:

PDF, 70 KB

english, 2006

19

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

Année:

2010

Langue:

english

Fichier:

PDF, 269 KB

english, 2010

20

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

Année:

2010

Langue:

english

Fichier:

PDF, 230 KB

english, 2010

21

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

Année:

2012

Langue:

english

Fichier:

PDF, 525 KB

english, 2012

22

A case of de Barsy syndrome with a severe eye phenotype

Mohammed Al-Owain, Shamsa Alanazi, Ola Khalifa, Amal Al-Hemidan, Loai Al-Ebdi, Bandar Al-Saud, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 115 KB

english, 2012

23

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

Année:

2006

Langue:

english

Fichier:

PDF, 110 KB

english, 2006

24

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

Année:

2011

Langue:

english

Fichier:

PDF, 143 KB

english, 2011

25

Identification of a novel ZNF469 mutation in a large family with Ehlers–Danlos phenotype

Mohammed Al-Owain, Mohammed S. Al-Dosari, Asma Sunker, Taghreed Shuaib, Fowzan S. Alkuraya

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 447 KB

english, 2012

26

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

Année:

2013

Langue:

english

Fichier:

PDF, 694 KB

english, 2013

27

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

Ramzan, Khushnooda, Al-Owain, Mohammed, Allam, Rabab, Berhan, Amal, Abuharb, Gheid, Taibah, Khalid, Imtiaz, Faiqa

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 842 KB

english, 2013

28

NovelPHKG2mutation causing GSD IX with prominent liver disease: report of three cases and review of literature

Albash, Buthainah, Imtiaz, Faiqa, Al-Zaidan, Hamad, Al-Manea, Hadeel, Banemai, Mohammed, Allam, R., Al-Suheel, Ali, Al-Owain, Mohammed

Journal:

European Journal of Pediatrics

Année:

2014

Langue:

english

Fichier:

PDF, 508 KB

english, 2014

29

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

Ramzan, Khushnooda, Taibah, Khalid, Tahir, Asma I., Al-Tassan, Nada, Berhan, Amal, Khater, Ahmed M., Al-Hazzaa, Selwa A.F., Al-Owain, Mohammed, Imtiaz, Faiqa

Journal:

European Journal of Medical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2014

30

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

Ramzan, Khushnooda, Imtiaz, Faiqa, Taibah, Khalid, Alnufiee, Samir, Akhtar, Mohammed, Al-Hazzaa, Selwa A.F., Al-Owain, Mohammed

Journal:

International Journal of Pediatric Otorhinolaryngology

Année:

2014

Langue:

english

Fichier:

PDF, 629 KB

english, 2014

31

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly

Faqeih, Eissa A., Al-Owain, Mohammed, Colak, Dilek, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Al-Saman, Abdulaziz, Albalawi, Fadwa, Al-Sarar, Dalia, Domiaty, Dalia, Daghestani, Maha, Kaya, Na

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 2.44 MB

english, 2014

32

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

Année:

2011

Langue:

english

Fichier:

PDF, 521 KB

english, 2011

33

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

Année:

2013

Langue:

english

Fichier:

PDF, 296 KB

english, 2013

34

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

Al-Owain, Mohammed, Kaya, Namik, Al-Zaidan, Hamad, Bin Hussain, Ibrahim, Al-Manea, Hadeel, Al-Hindi, Hindi, Kennedy, Shelley, Iqbal, M. Anwar, Al-Mojalli, Hamad, Al-Bakheet, Albandary, Puel, Anne, Cas

Journal:

Clinical & Developmental Immunology

Année:

2010

Langue:

english

Fichier:

PDF, 7.44 MB

english, 2010

35

ADAT3 -related intellectual disability: Further delineation of the phenotype

El-Hattab, Ayman W., Saleh, Mohammed A., Hashem, Amal, Al-Owain, Mohammed, Asmari, Ali Al, Rabei, Hala, Abdelraouf, Hanem, Hashem, Mais, Alazami, Anas M., Patel, Nisha, Shaheen, Ranad, Faqeih, Eissa A

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 323 KB

english, 2016

36

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S.,

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2016

37

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S.,

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 55 KB

english, 2016

38

Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids

Yagita, Yuichi, Shinohara, Kyoko, Abe, Yuichi, Nakagawa, Keiko, Al-Owain, Mohammed, Alkuraya, Fowzan S., Fujiki, Yukio

Journal:

Journal of Biological Chemistry

Année:

2017

Langue:

english

Fichier:

PDF, 3.05 MB

english, 2017

39

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

Année:

2017

Langue:

english

Fichier:

PDF, 3.19 MB

english, 2017

40

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

Année:

2017

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2017

41

Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations

Nashabat, Marwan, Maegawa, Gustavo, Nissen, Peter H., Nexo, Ebba, Al-Shamrani, Hussain, Al-Owain, Mohammed, Alfadhel, Majid

Journal:

Journal of Pediatric Hematology/Oncology

Année:

2017

Langue:

english

Fichier:

PDF, 135 KB

english, 2017

42

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hama

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 545 KB

english, 2017

43

Lethal digenic mutations in the K + channels Kir4.1 ( KCNJ10 ) and SLACK ( KCNT1 ) associated with severe-disabling seizures and neurodevelopmental delay

Hasan, Sonia Majed, Balobaid, Ameera, Grottesi, Alessandro, Dabbagh, Omar, Cenciarini, Marta, Rawashdeh, Rifaat, Al-Sagheir, Afaf, Bove, Cecilia, Macchioni, Lara, Pessia, Mauro, Al-Owain, Mohammed, D'

Journal:

Journal of Neurophysiology

Année:

2017

Langue:

english

Fichier:

PDF, 7.07 MB

english, 2017

44

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

Année:

2017

Langue:

english

Fichier:

PDF, 396 KB

english, 2017

45

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

van Spronsen, Francjan J, Himmelreich, Nastassja, Rüfenacht, Véronique, Shen, Nan, Vliet, Danique van, Al-Owain, Mohammed, Ramzan, Khushnooda, Alkhalifi, Salwa M, Lunsing, Roelineke J, Heiner-Fokkema,

Journal:

Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 395 KB

english, 2017

46

Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases

Wortmann, Saskia B, Iwanicka-Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al-Owain, Mohammed A, Al-Zaidan, Hamad I, Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dal

Journal:

Annals of Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2017

47

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

Année:

2018

Langue:

english

Fichier:

PDF, 49 KB

english, 2018

48

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

Ramzan, Khushnooda, Al-Owain, Mohammed, Huma, Rozeena, Al-Hazzaa, Selwa A.F., Al-Ageel, Sarah, Imtiaz, Faiqa, Al-Sayed, Moeenaldeen

Journal:

International Journal of Pediatric Otorhinolaryngology

Année:

2018

Langue:

english

Fichier:

PDF, 2.45 MB

english, 2018

49

De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype

Derar, Nada, Al-Hassnan, Zuhair N, Al-Owain, Mohammed, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Moghrabi, Nabil, Alkuraya, Fowzan S

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 506 KB

english, 2018

50

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

Salih, Mustafa A., Mundwiller, Emeline, Khan, Arif O., AlDrees, Abdulmajeed, Elmalik, Salah A., Hassan, Hamdy H., Al-Owain, Mohammed, Alkhalidi, Hisham M. S., Katona, Istvan, Kabiraj, Mohammad M., Chr

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 3.38 MB

english, 2013