S. Alkuraya, Fowzan: search on Z-Library

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1

WDR45B -related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: a consistent neurodevelopmental syndrome

Suleiman, Jehan, Allingham-Hawkins, Diane, Hashem, Mais, Shamseddin, Hanan, Alkuraya, Fowzan S., El-Hattab, Ayman W.

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.20 MB

english, 2017

2

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, Hui, Zhang, Qiumeng, Dai, Rujia, Yu, Bin, Hoekzema, Kendra, Tan, Jieqiong, Tan, Senwei, Jia, Xiangbin, Chung, Wendy K., Hernan, Rebecca, Alkuraya, Fowzan S., Alsulaiman, Ahood, Al-Muhaizea, Moham

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 625 KB

2020

3

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity

Nabil, Amira, El Shafei, Sahar, El Shakankiri, Nihal M., Habib, Ahmed, Morsy, Heba, Maddirevula, Sateesh, Alkuraya, Fowzan S.

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 737 KB

2020

4

A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma

Al-Saud, Bandar, Al Alawi, Zainab, Hussain, Faisal Bin, Hershfield, Michael, Alkuraya, Fowzan S., Al-Mayouf, Sulaiman M.

Journal:

Journal of Clinical Immunology

Year:

2020

File:

PDF, 677 KB

2020

5

The natural history of infantile neuroaxonal dystrophy

Altuame, Fadie D., Foskett, Gretchen, Atwal, Paldeep S., Endemann, Sarah, Midei, Mark, Milner, Peter, Salih, Mustafa A., Hamad, Muddathir, Al-Muhaizea, Mohammad, Hashem, Mais, Alkuraya, Fowzan S.

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 993 KB

2020

6

A null mutation in TNIK defines a novel locus for intellectual disability

Anazi, Shams, Shamseldin, Hanan E., AlNaqeb, Dhekra, Abouelhoda, Mohamed, Monies, Dorota, Salih, Mustafa A., Al-Rubeaan, Khalid, Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.40 MB

english, 2016

7

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes

Abualsaud, Dalia, Hashem, Mais, AlHashem, Amal, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.93 MB

2020

8

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

Picker-Minh, Sylvie, Mignot, Cyril, Doummar, Diane, Hashem, Mais, Faqeih, Eissa, Josset, Patrice, Dubern, Béatrice, Alkuraya, Fowzan S., Kraemer, Nadine, Kaindl, Angela M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 3.28 MB

english, 2016

9

Mutations of PTPN23 in developmental and epileptic encephalopathy

Sowada, Nadine, Hashem, Mais Omar, Yilmaz, Rüstem, Hamad, Muddathir, Kakar, Naseebullah, Thiele, Holger, Arold, Stefan T., Bode, Harald, Alkuraya, Fowzan S., Borck, Guntram

Journal:

Year:

2017

Language:

english

File:

PDF, 964 KB

english, 2017

10

Smith-Lemli-Opitz syndrome in trisomy 13: How does the mix work?

Fowzan S. Alkuraya, Jonathan Picker, Mira B. Irons, Virginia E. Kimonis

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2005

Language:

english

File:

PDF, 159 KB

english, 2005

11

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Abouelhoda, Mohamed, Sobahy, Turki, El-Kalioby, Mohamed, Patel, Nisha, Shamseldin, Hanan, Monies, Dorota, Al-Tassan, Nada, Ramzan, Khushnooda, Imtiaz, Faiqa, Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 596 KB

english, 2016

12

Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?

Patel, Nisha, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 488 KB

english, 2015

13

Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example

Mohamed A. Aldahmesh, Leen Abu-Safieh, Arif O. Khan, Zuhair N. Al-Hassnan, Ranad Shaheen, Mohammed Rajab, Dorota Monies, Brian F. Meyer, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 204 KB

english, 2009

14

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, Lihadh I. Al-Gazali, Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 518 KB

english, 2009

15

Corneal Decompensation in Recessive Cornea Plana

Khan, Arif O., Aldahmesh, Mohammed A., Al-Gehedan, Saeed, Meyer, Brain F., Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2009

Language:

english

File:

PDF, 446 KB

english, 2009

16

Discovery of mutations for Mendelian disorders

Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 683 KB

english, 2016

17

Natural human knockouts and the era of genotype to phenotype

Alkuraya, Fowzan S

Journal:

Genome Medicine

Year:

2015

Language:

english

File:

PDF, 316 KB

english, 2015

18

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

Shamseldin, Hanan E., Khalifa, Ola, Binamer, Yousef M., Almutawa, Abdulmonem, Arold, Stefan T., Zaidan, Hamad, Alkuraya, Fowzan S.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.11 MB

english, 2017

19

Formation of tRNA wobble inosine in humans is disrupted by a millennia-old mutation causing intellectual disability

Ramos, Jillian, Han, Lu, Li, Yan, Hagelskamp, Felix, Kellner, Stefanie M., Alkuraya, Fowzan S., Phizicky, Eric M., Fu, Dragony

Journal:

Molecular and Cellular Biology

Year:

2019

Language:

english

File:

PDF, 2.81 MB

english, 2019

20

3M Syndrome: An Easily Recognizable yet Underdiagnosed Cause of Proportionate Short Stature

Mohammed S. Al-Dosari, Muneera Al-Shammari, Ranad Shaheen, Eissa Faqeih, Mohammed A. AlGhofely, Ahmad Boukai, Fowzan S. Alkuraya

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 1.21 MB

english, 2012

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

Year:

2012

Language:

english

File:

PDF, 525 KB

english, 2012

22

HomozygousKCNMA1mutation as a cause of cerebellar atrophy, developmental delay and seizures

Tabarki, Brahim, AlMajhad, Nabil, AlHashem, Amal, Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 616 KB

english, 2016

23

Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice

Ali, Asmaa, Mistry, Bhavesh V., Ahmed, Hala A., Abdulla, Razan, Amer, Hassan A., Prince, Abdelbary, Alazami, Anas M., Alkuraya, Fowzan S., Assiri, Abdullah

Journal:

Scientific Reports

Year:

2018

File:

PDF, 664 KB

2018

24

A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome

Al-Qattan, Mohammad M., Maddirevula, Sateesh, Alkuraya, Fowzan S.

Journal:

European Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 771 KB

english, 2019

25

GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening

Namik Kaya, Mohammad Al- Owain, Nada AbuDheim, Jawaher Al- Zahrani, Dilek Colak, Moeen Al- Sayed, Aysel Milanlioglu, Pinar T. Ozand, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 90 KB

english, 2011

26

A nullimorphicERLIN2mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Anas M. Alazami, Nouran Adly, Hisham Al Dhalaan, Fowzan S. Alkuraya

Journal:

Year:

2011

Language:

english

File:

PDF, 286 KB

english, 2011

27

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

28

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Fowzan S. Alkuraya, Xuyu Cai, Carina Emery, Ganeshwaran H. Mochida, Mohammed S. Al-Dosari, Jillian M. Felie, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Generoso G. Gascon, Amal Kentab, Mohamm

Journal:

The American Journal of Human Genetics

Year:

2011

File:

PDF, 25 KB

2011

29

Phenotype–genotype correlation in clinically diagnosed recessive cornea plana

Arif O. Khan, Mohammed A. Aldahmesh, Brian F. Meyer, Fowzan S. Alkuraya

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2012

Language:

english

File:

PDF, 41 KB

english, 2012

30

Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations

Aldahmesh, Mohammed A., Khan, Arif O., Mohamed, Jawahir, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 737 KB

english, 2011

31

FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy

Al-Yacoub, Nadya, Shaheen, Ranad, Awad, Salma Mahmoud, Kunhi, Muhammad, Dzimiri, Nduna, Nguyen, Henry C., Xiong, Yong, Al-Buraiki, Jehad, Al-Habeeb, Waleed, Alkuraya, Fowzan S., Poizat, Coralie

Journal:

Year:

2016

Language:

english

File:

PDF, 2.44 MB

english, 2016

32

A lethal phenotype associated with tissue plasminogen deficiency in humans

Shamseldin, Hanan E., Aldeeri, Abdulrahman, Babay, Zainab, Alsultan, Abdulrahman, Hashem, Mais, Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.57 MB

english, 2016

33

MED12 is recurrently mutated in Middle Eastern colorectal cancer

Siraj, Abdul K, Masoodi, Tariq, Bu, Rong, Pratheeshkumar, Poyil, Al-Sanea, Nasser, Ashari, Luai H, Abduljabbar, Alaa, Alhomoud, Samar, Al-Dayel, Fouad, Alkuraya, Fowzan S, Al-Kuraya, Khawla S

Journal:

Year:

2017

Language:

english

File:

PDF, 1.68 MB

english, 2017

34

CNP deficiency causes severe hypomyelinating leukodystrophy in humans

Al-Abdi, Lama, Al Murshedi, Fathiya, Elmanzalawy, Alaa, Al Habsi, Asila, Helaby, Rana, Ganesh, Anuradha, Ibrahim, Niema, Patel, Nisha, Alkuraya, Fowzan S.

Journal:

Year:

2020

File:

PDF, 1.76 MB

2020

35

Phenotypic expansion of OTUD6B ârelated syndrome

Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

Language:

english

File:

PDF, 601 KB

english, 2020

36

Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

Irfan Saadi, Fowzan S. Alkuraya, Stephen S. Gisselbrecht, Wolfram Goessling, Resy Cavallesco, Annick Turbe-Doan, Aline L. Petrin, James Harris, Ursela Siddiqui, Arthur W. Grix Jr., Hanne D. Hove, Phil

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 2.41 MB

english, 2011

37

Childhood Cone-rod Dystrophy with Macular Cystic Degeneration from Recessive CRB1 Mutation

Khan, Arif O., Aldahmesh, Mohammed A., Abu-Safieh, Leen, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2014

Language:

english

File:

PDF, 577 KB

english, 2014

38

Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

Patel, Nisha, Khan, Arif O., Mansour, Ahmad, Mohamed, Jawahir Y., Al-Assiri, Abdullah, Haddad, Randa, Jia, Xiaofei, Xiong, Yong, Mégarbané, André, Traboulsi, Elias I., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.59 MB

english, 2014

39

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

Shamseldin, Hanan E., Smith, Laura L., Kentab, Amal, Alkhalidi, Hisham, Summers, Brady, Alsedairy, Haifa, Xiong, Yong, Gupta, Vandana A., Alkuraya, Fowzan S.

Journal:

Year:

2016

Language:

english

File:

PDF, 5.36 MB

english, 2016

40

Tufting Enteropathy and Chronic Arthritis: A Newly Recognized Association With a Novel EpCAM Gene Mutation

Al-Mayouf, Sulaiman M, Alswaied, Nahla, Alkuraya, Fowzan S, AlMehaidib, Ali, Faqih, Mosa

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2009

Language:

english

File:

PDF, 299 KB

english, 2009

41

Joint laxity in homozygotes for severe POU1F1 mutations

Shamseldin, Hanan E., Maddirevula, Sateesh, Nabil, Amira, Al-Fadhil, Saeed, Al Tala, Saeed, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 394 KB

english, 2016

42

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2

Maddirevula, Sateesh, Coskun, Serdar, Alhassan, Saad, Elnour, Atif, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous, Arold, Stefan T., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.11 MB

english, 2017

43

Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

Aldahmesh, Mohammed A., Khan, Arif O., Meyer, Brian F., Alkuraya, Fowzan S.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 186 KB

english, 2009

44

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

Unlu, Gokhan, Qi, Xinzi, Gamazon, Eric R., Melville, David B., Patel, Nisha, Rushing, Amy R., Hashem, Mais, Al-Faifi, Abdullah, Chen, Rui, Li, Bingshan, Cox, Nancy J., Alkuraya, Fowzan S., Knapik, Ela

Journal:

Nature Medicine

Year:

2020

File:

PDF, 20.91 MB

2020

45

Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita

Altawil, Lama, Alshihry, Hind, Ahmed, Hala, Shamseldin, Hanan E., Alkuraya, Fowzan

Journal:

JAAD Case Reports

Year:

2020

File:

PDF, 663 KB

2020

46

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

Year:

2008

Language:

english

File:

PDF, 310 KB

english, 2008

47

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

Khan, Arif O., Aldahmesh, Mohammed A., Al-Ghadeer, Huda, Mohamed, Jawaher Y., Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 813 KB

english, 2012

48

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

Sewairi, Wafaa, Assiri, Abdulrahman, Patel, Nisha, Alhashem, Amal, Alkuraya, Fowzan S

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 846 KB

english, 2016

49

360. Genotype/Phenotype Correlation of Cellular Function and AAV-Mediated Gene Delivery to Treat Xeroderma Pigmentosum - Cockayne Syndrome (XP - CS)

Rizzo, Skylar, Donate, Amy L., Jones, Michael, Manko, Kelsey, Santostefano, Katherine E., Terada, Nao, Alkuraya, Fowzan S., Kang, Peter B., Pacak, Christina A.

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 337 KB

english, 2016

50

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

Shaheen, Ranad, Tasak, Monika, Maddirevula, Sateesh, Abdel-Salam, Ghada M. H., Sayed, Inas S. M., Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S.

Journal:

Year:

2019

Language:

english

File:

PDF, 2.43 MB

english, 2019

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