Salma Wakil : rechercher sur Z-Library

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1

A study of the role of GATA2 gene polymorphism in coronary artery disease risk traits

Muiya, Nzioka P., Wakil, Salma, Al-Najai, Mohammed, Tahir, Asma I., Baz, Batoul, Andres, Editha, Al-Boudari, Olyan, Al-Tassan, Nada, Al-Shahid, Maie, Meyer, Brian F., Dzimiri, Nduna

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 467 KB

english, 2014

2

Genetic Study of Saudi Diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes

Osama Alsmadi, Khalid Al-Rubeaan, Salma M. Wakil, Faiqa Imtiaz, Gamal Mohamed, Haya Al-Saud, Nouran Abu Al-Saud, Nasser Aldaghri, Shahinaz Mohammad, Brian F Meyer

Journal:

Diabetes/Metabolism Research and Reviews

Année:

2008

Langue:

english

Fichier:

PDF, 85 KB

english, 2008

3

New susceptibility locus for obesity and dyslipidaemia on chromosome 3q22.3

Maie Alshahid, Salma M Wakil, Mohammed Al-Najai, Nzioka P Muiya…

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 458 KB

english, 2013

4

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Shaheen, Ranad, Anazi, Shams, Ben-Omran, Tawfeg, Seidahmed, Mohammed Zain, Caddle, L. Brianna, Palmer, Kristina, Ali, Rehab, Alshidi, Tarfa, Hagos, Samya, Goodwin, Leslie, Hashem, Mais, Wakil, Salma M

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.91 MB

english, 2016

5

Prevalence and profile of mutations associated with lamivudine therapy in Indian patients with chronic hepatitis B in the surface and polymerase genes of hepatitis B virus

Salma M. Wakil, Syed N. Kazim, Luqman A. Khan, Sheikh Raisuddin, Mohammad K. Parvez, Rajkumar C. Guptan, Varsha Thakur, Seyed E. Hasnain, Shiv K. Sarin

Journal:

Journal of Medical Virology

Année:

2002

Langue:

english

Fichier:

PDF, 173 KB

english, 2002

6

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)

Alsmadi, Osama, Meyer, Brian F, Alkuraya, Fowzan, Wakil, Salma, Alkayal, Fadi, Al-Saud, Haya, Ramzan, Khushnooda, Al-Sayed, MoeenAldeen

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 310 KB

english, 2008

7

Genetics of type 2 diabetes in Arabs: What we know to date

Brian F. Meyer, Osama Alsmadi, Salma Wakil, Khalid Al-Rubeaan

Journal:

International Journal of Diabetes Mellitus

Année:

2009

Langue:

english

Fichier:

PDF, 97 KB

english, 2009

8

Identification of loci conferring risk for premature CAD and heterozygous familial hyperlipidemia in the LDLR, APOB and PCSK9 genes

Paul Muiya, Salma Wakil, Mohamed Al-Najai, Brian F. Meyer, Futwan Al-Mohanna, Maie Alshahid, Nduna Dzimiri

Journal:

International Journal of Diabetes Mellitus

Année:

2009

Langue:

english

Fichier:

PDF, 132 KB

english, 2009

9

Vertical transmission of hepatitis B virus despite maternal lamivudine therapy

Syed N Kazim, Salma M Wakil, Luqman A Khan, Seyed E Hasnain, Shiv K Sarin

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 73 KB

english, 2002

10

O4 Familial juvenile idiopathic arthritis: clinical features and localization to chromosome 13q

M Al Mayouf Sulaiman, M Wakil Salma, Al-Amr Rana, Alsmadi Osama, Monies Dorota, F Meyer Brian

Journal:

Indian Journal of Rheumatology

Année:

2007

Langue:

english

Fichier:

PDF, 56 KB

english, 2007

11

Beneficial effects of lamivudine in hepatitis B virus-related decompensated cirrhosis

Dharmesh Kapoor, Rajkumar C Guptan, Salma M Wakil, Syed N Kazim, Rachna Kaul, Shri Ram Agarwal, Sheikh Raisuddin, Seyed E Hasnain, Shiv K Sarin

Journal:

Journal of Hepatology

Année:

2000

Langue:

english

Fichier:

PDF, 684 KB

english, 2000

12

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T

Wakil, Salma M., Ramzan, Khushnooda, Abuthuraya, Rula, Hagos, Samya, Al-Dossari, Haya, Al-Omar, Rana, Murad, Hatem, Chedrawi, Aziza, Al-Hassnan, Zuhair N., Finsterer, Josef, Bohlega, Saeed

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 327 KB

english, 2014

13

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

Monies, Dorota M., Al-Hindi, Hindi N., Al-Muhaizea, Mohamed A., Jaroudi, Dyala J., Al-Younes, Banan, Naim, Ewa A., Wakil, Salma M., Meyer, Brian F., Bohlega, Saeed

Journal:

Neuromuscular Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2014

14

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

Wakil, Salma M., Bohlega, Saeed, Hagos, Samya, Baz, Batoul, Al Dossari, Haya, Ramzan, Khushnooda, Al-Hassnan, Zuhair N.

Journal:

European Journal of Medical Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 391 KB

english, 2013

15

Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis

Wakil, Salma M., Monies, Dorota M., Abouelhoda, Mohamed, Al-Tassan, Nada, Al-Dusery, Haya, Naim, Ewa A., Al-Younes, Banan, Shinwari, Jameela, Al-Mohanna, Futwan A., Meyer, Brian F., Al-Mayouf, Sulaima

Journal:

Arthritis & Rheumatology

Année:

2015

Langue:

english

Fichier:

PDF, 583 KB

english, 2015

16

Genotyping of CYP2C19 polymorphisms and its clinical validation in the ethnic Arab population

Tayeb, Hamsa T., Bakheet, Dana H., Zaza, Khaled, Wakil, Salma M., Dzimiri, Nduna

Journal:

Journal of Pharmacy and Pharmacology

Année:

2015

Langue:

english

Fichier:

PDF, 201 KB

english, 2015

17

Subcutaneous nodules, arthropathy, coarse face, cataract and glaucoma

Al-Mayouf, Sulaiman M., Wakil, Salma, AlIsamail, Khalid, Al-Hassnan, Zuhair N.

Journal:

Clinical Dysmorphology

Année:

2011

Langue:

english

Fichier:

PDF, 128 KB

english, 2011

18

Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy

Al-Semari, Abdulaziz, Wakil, Salma M., Al-Muhaizea, Mohammad A., Dababo, Mohammed, Al-Amr, Rana, Alkuraya, Fowzan, Meyer, Brian F.

Journal:

Clinical Dysmorphology

Année:

2013

Langue:

english

Fichier:

PDF, 440 KB

english, 2013

19

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

Al-Qattan, Sarah M., Wakil, Salma M., Anazi, Shamsa, Alazami, Anas M., Patel, Nisha, Shaheen, Ranad, Shamseldin, Hanan E., Hagos, Samya T., AlDossari, Haya M., Salih, Mustafa A., El Khashab, Heba Y.,

Journal:

Genetics in Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 1.80 MB

english, 2014

20

Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

Jan, Abid, Basit, Sulman, Wakil, Salma M., Ramzan, Khushnooda, Ahmad, Wasim

Journal:

Journal of Dermatological Science

Année:

2015

Langue:

english

Fichier:

PDF, 177 KB

english, 2015

21

A New Susceptibility Locus for Myocardial Infarction, Hypertension, Type 2 Diabetes Mellitus, and Dyslipidemia on Chromosome 12q24

Wakil, Salma M., Muiya, Nzioka P., Tahir, Asma I., Al-Najai, Mohammed, Baz, Batoul, Andres, Editha, Mazhar, Nejat, Al Tassan, Nada, Alshahid, Maie, Meyer, Brian F., Dzimiri, Nduna

Journal:

Disease Markers

Année:

2014

Langue:

english

Fichier:

PDF, 524 KB

english, 2014

22

A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

Al-Tassan, Nada A., Whiffin, Nicola, Hosking, Fay J., Palles, Claire, Farrington, Susan M., Dobbins, Sara E., Harris, Rebecca, Gorman, Maggie, Tenesa, Albert, Meyer, Brian F., Wakil, Salma M., Kinners

Journal:

Scientific Reports

Année:

2015

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2015

23

Phenotypic Variation and Allelic Heterogeneity in Young Patients with Papillon‐Lefèvre Syndrome

Ullbro, Christer, El‐Samadi, Safia, Boumah, Christine, Al‐Yousef, Nujoud, Wakil, Salma, Twetman, Svante, Alfadley, Abdullah, Thestrup‐Pedersen, Kristian, Meyer, Brian

Journal:

Acta Dermato Venereologica

Année:

2005

Langue:

english

Fichier:

PDF, 2.44 MB

english, 2005

24

A novel homozygous variant in thedspgene underlies the first case of non-syndromic form of alopecia

Jan, Abid, Basit, Sulman, Wakil, Salma M., Ramzan, Khushnooda, Ahmad, Wasim

Journal:

Archives of Dermatological Research

Année:

2015

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2015

25

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

Khalak, Hanif G., Wakil, Salma M., Imtiaz, Faiqa, Ramzan, Khushnooda, Baz, Batoul, Almostafa, Abeer, Hagos, Samya, Alzahrani, Fatema, Abu-Dhaim, Nada, Abu Safieh, Leen, Al-Jbali, Latifa, Al-Hamed, Moh

Journal:

Genetics in Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 501 KB

english, 2012

26

Abnormalities of Skin and Cutaneous Appendages in Neuromuscular Disorders

Finsterer, Josef, Wakil, Salma

Journal:

Pediatric Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2015

27

A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs

Wakil, Salma M., Ram, Ramesh, Muiya, Nzioka P., Mehta, Munish, Andres, Editha, Mazhar, Nejat, Baz, Batoul, Hagos, Samya, Alshahid, Maie, Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna

Journal:

Atherosclerosis

Année:

2016

Langue:

english

Fichier:

PDF, 916 KB

english, 2016

28

New analytical application of antibody-based biosensor in estimation of thyroid-stimulating hormone in serum

Wani, Tanveer A, Zargar, Seema, Wakil, Salma Majid, Darwish, Ibrahim A

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 889 KB

english, 2016

29

Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease)

Finsterer, Josef, Mishra, Anushree, Wakil, Salma, Pennuto, Maria, Soraru, Gianni

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Année:

2016

Langue:

english

Fichier:

PDF, 381 KB

english, 2016

30

Data on common variants associated with coronary artery disease/myocardial infarction in ethnic Arabs

Wakil, Salma M., Ram, Ramesh, Muiya, Nzioka P., Mehta, Munish, Andres, Editha, Mazhar, Nejat, Baz, Batoul, Hagos, Samya, Alshahid, Maie, Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 784 KB

english, 2016

31

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

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,

Journal:

BMC Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 2.63 MB

english, 2016

32

Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families

Wakil, Salma M., Binamer, Yousef, Al-Dossari, Haya, Al-Humaidy, Rawan, Thuraya, Rula Al, Khalifa, Ola, Finsterer, Josef, Meyer, Brian F., Al Owain, Mohammed

Journal:

International Journal of Dermatology

Année:

2016

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2016

33

Novel copy number variants and major limb reduction malformation: Report of three cases

Shamseldin, Hanan E., Anazi, Shams, Wakil, Salma M., Faqeih, Eissa, El Khashab, Heba Y., Salih, Mustafa A., Al-Qattan, Mohammad M., Hashem, Mais, Alsedairy, Haifa, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 4.55 MB

english, 2016

34

A common variant association study reveals novel susceptibility loci for low HDL-cholesterol levels in ethnic Arabs

Wakil, Salma M., Ram, Ramesh, Muiya, Nzioka P., Andres, Editha, Mazhar, Nejat, Hagos, Samya, Alshahid, Maie, Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna

Journal:

Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 485 KB

english, 2016

35

A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia

Ram, Ramesh, Wakil, Salma M., Muiya, Nzioka P., Andres, Editha, Mazhar, Nejat, Hagos, Samya, Alshahid, Maie, Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna

Journal:

Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.28 MB

english, 2016

36

Stroke-like episodes, peri-episodic seizures, and MELAS mutations

Finsterer, Josef, Wakil, Salma Majid

Journal:

European Journal of Paediatric Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 331 KB

english, 2016

37

Erratum: Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

Al-Tassan, Nada A., Whiffin, Nicola, Hosking, Fay J., Palles, Claire, Farrington, Susan M., Dobbins, Sara E., Harris, Rebecca, Gorman, Maggie, Tenesa, Albert, Meyer, Brian F., Wakil, Salma M., Kinners

Journal:

Scientific Reports

Année:

2015

Langue:

english

Fichier:

PDF, 135 KB

english, 2015

38

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

Patel, Nisha, Shamseldin, Hanan E., Sakati, Nadia, Khan, Arif O., Softa, Ameen, Al-Fadhli, Fatima M., Hashem, Mais, Abdulwahab, Firdous M., Alshidi, Tarfa, Alomar, Rana, Alobeid, Eman, Wakil, Salma M.

Journal:

The American Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 2.00 MB

english, 2017

39

A study of the role of GATA4 polymorphism in cardiovascular metabolic disorders

Nzioka P Muiya,Salma M Wakil,Asma I Tahir,Samya Hagos,Mohammed Najai…

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 673 KB

english, 2013

40

Design of Arab Diabetes Gene-Centric Array (ADGCA) in population with an epidemic of Type 2 Diabetes: A population specific SNP evaluation

Al-Rubeaan, Khalid, Musambil, Mohthash, Wakil, Salma Majid, Al-Saud, Haya, Saeb, Amr T.M., Al-Qasim, Sara, Al-Naqeb, Dhekra

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2018

41

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

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,

Journal:

Molecular Cytogenetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2018

42

Identification of a novel genetic locus underlying tremor and dystonia

Monies, Dorota, Abou Al-Shaar, Hussam, Goljan, Ewa A., Al-Younes, Banan, Al-Breacan, Muna Monther Abdullah, Al-Saif, Maher Mohammed, Wakil, Salma M., Meyer, Brian F., Khabar, Khalid S. A., Bohlega, Sa

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.84 MB

english, 2017

43

The Affymetrix DMET Plus Platform Reveals Unique Distribution of ADME-Related Variants in Ethnic Arabs

Wakil, Salma M., Nguyen, Cao, Muiya, Nzioka P., Andres, Editha, Lykowska-Tarnowska, Agnieszka, Baz, Batoul, Tahir, Asma I., Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna

Journal:

Disease Markers

Année:

2015

Langue:

english

Fichier:

PDF, 1.30 MB

english, 2015

44

Replication of Type 2 diabetes-associated variants in a Saudi Arabian population

Li-Gao, Ruifang, Wakil, Salma M., Meyer, Brian F., Dzimiri, Nduna, Mook-Kanamori, Dennis O.

Journal:

Physiological Genomics

Année:

2018

Langue:

english

Fichier:

PDF, 48 KB

english, 2018

45

Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Finsterer, Josef, Scorza, Carla A., Scorza, Fulvio A., Wakil, Salma M.

Journal:

Acta Neurologica Belgica

Année:

2019

Langue:

english

Fichier:

PDF, 446 KB

english, 2019

46

Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Finsterer, Josef, Scorza, Carla A., Scorza, Fulvio A., Wakil, Salma M.

Journal:

Acta Neurologica Belgica

Année:

2019

Fichier:

PDF, 446 KB

2019

47

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

Wakil, Salma M., Alhissi, Safa, Al Dossari, Haya, Alqahtani, Ayesha, Shibin, Sherin, Melaiki, Brahim T., Finsterer, Josef, Al-Hashem, Amal, Bohlega, Saeed, Alazami, Anas M.

Journal:

BMC Medical Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 747 KB

english, 2019

48

A novel KIT mutation in a family with expanded syndrome of piebaldism

Hamadah, Issam, Chisti, Muzamil, Haider, Mansoor, Al Dosssari, Haya, Alhumaidan, Rawan, Meyer, Brian F., Wakil, Salma M.

Journal:

JAAD Case Reports

Année:

2019

Langue:

english

Fichier:

PDF, 890 KB

english, 2019

49

New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia

Dasouki, Majed J., Wakil, Salma M., Al-Harazi, Olfat, Alkorashy, Maarab, Muiya, Nzioka P., Andres, Editha, Hagos, Samya, Aldusery, Haya, Dzimiri, Nduna, Colak, Dilek

Journal:

Omics A Journal of Integrative Biology

Année:

2019

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2019

50

New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia

Dasouki, Majed J., Wakil, Salma M., Al-Harazi, Olfat, Alkorashy, Maarab, Muiya, Nzioka P., Andres, Editha, Hagos, Samya, Aldusery, Haya, Dzimiri, Nduna, Colak, Dilek

Journal:

Omics A Journal of Integrative Biology

Année:

2019

Fichier:

PDF, 1.02 MB

2019