Fowzan S Alkuraya: 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

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

3

Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations

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

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2013

Language:

english

File:

PDF, 404 KB

english, 2013

4

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

5

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

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

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

8

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

9

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

10

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

11

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

12

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

13

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

14

Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement

Fowzan S. Alkuraya, Angela E. Lin, Mira B. Irons, Virginia E. Kimonis

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 134 KB

english, 2005

15

A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for “ring chromosome 2 syndrome”

Fowzan S. Alkuraya, Virginia E. Kimonis, Laura Holt, Joyce L. Murata-Collins

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

16

Expanding the “E” in CHARGE

Anas M. Alazami, Fatema Alzahrani, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 116 KB

english, 2008

17

Johanson–Blizzard syndrome: Report of a novel mutation and severe liver involvement

Mohammed S. Al-Dosari, Saleh Al-Muhsen, Ayman Al-Jazaeri, Julia Mayerle, Martin Zenker, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 244 KB

english, 2008

18

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

19

NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness

Kerry K. Brown, Fowzan S. Alkuraya, Michael Matos, Richard L. Robertson, Virginia E. Kimonis, Cynthia C. Morton

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 215 KB

english, 2009

20

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations

Mohammed Al-Dosari, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 352 KB

english, 2009

21

Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV

Hanan E. Shamseldin, Zuhair Rahbeeni, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 137 KB

english, 2010

22

Mutation of CANT1 causes Desbuquois dysplasia

Maha Faden, Fatema Al-Zahrani, Dia Arafah, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 180 KB

english, 2010

23

Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity

Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 186 KB

english, 2010

24

Arthrogryposis, perthes disease, and upward gaze palsy: A novel autosomal recessive syndromic form of arthrogryposis

Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 156 KB

english, 2011

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

Ritscher–Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement

Mohammed Zein Seidahmed, Fowzan S. Alkuraya, Meeralebbae Shaheed, Mohammed Al Zahrani, Waleed Al Manea, Fayzeh Mansour, Tareq Mustafa, Gehan Farid, Mustafa A. Salih

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 599 KB

english, 2011

27

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

Year:

2011

Language:

english

File:

PDF, 3.12 MB

english, 2011

28

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

Anas M. Alazami, Dorota Monies, Brian F. Meyer, Fatema Alzahrani, Mais Hashem, Mustafa A. Salih, Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 335 KB

english, 2012

29

Trisomy 8 mosaicism in a patient with heterotaxia

Fowzan S. Alkuraya, David J. Harris

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2005

Language:

english

File:

PDF, 112 KB

english, 2005

30

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

Ranad Shaheen, Eissa Faqeih, Mohammed Z. Seidahmed, Asma Sunker, Faten Ezzat Alali, AlQahtani Khadijah, Fowzan S. Alkuraya

Journal:

Year:

2011

Language:

english

File:

PDF, 298 KB

english, 2011

31

Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: How many are we missing?

Fowzan S. Alkuraya, Christa L. Martin, Virginia E. Kimonis

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 137 KB

english, 2006

32

Attitude of Saudi families affected with hemoglobinopathies towards prenatal screening and abortion and the influence of religious ruling (Fatwa)

Fowzan S. Alkuraya, Ramzi A. Kilani

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 52 KB

english, 2001

33

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

34

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

35

MGAT2-CDG (CDG-IIa) and dysmorphism

Fowzan S. Alkuraya

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 43 KB

english, 2012

36

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

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

Journal:

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

37

Molecular characterization of Joubert syndrome in Saudi Arabia

Anas M. Alazami, Muneera J. Alshammari, Mustafa A. Salih, Fatema Alzahrani, Hadia Hijazi, Mohammed Z. Seidahmed, Leen Abu Safieh, Mazhor Aldosary, Arif O. Khan, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 357 KB

english, 2012

38

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, Gail A.P. Bruns, Diana J. Donovan, Robert Eisenman, Yanli Fan, Chantal G. Farra, Heather L. Ferguson, James F. Gusella, David J. Harr

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 274 KB

english, 2008

39

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, Gail A.P. Bruns, Diana J. Donovan, Robert Eisenman, Yanli Fan, Chantal G. Farra, Heather L. Ferguson, James F. Gusella, David J. Harr

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 72 KB

english, 2008

40

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

41

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, 27 KB

english, 2009

42

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

Jose Morales, Latifa Al-Sharif, Dania S. Khalil, Jameela M.A. Shinwari, Prashant Bavi, Rahima A. Al-Mahrouqi, Ali Al-Rajhi, Fowzan S. Alkuraya, Brian F. Meyer, Nada Al Tassan

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.12 MB

english, 2009

43

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, 269 KB

english, 2010

44

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

45

Vogel and Motulsky's Human Genetics, 4th Edition

Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 31 KB

english, 2011

46

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

47

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

Language:

english

File:

PDF, 1.25 MB

english, 2011

48

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

49

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

Ranad Shaheen, Eissa Faqeih, Asma Sunker, Heba Morsy, Tarfa Al-Sheddi, Hanan E. Shamseldin, Nouran Adly, Mais Hashem, Fowzan S. Alkuraya.

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 709 KB

english, 2011

50

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham S. Alkuraya, Ishwar C. Verma, Ratna D. Puri, Ayodele A. Alaiya, William B. Rizzo, Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 696 KB

english, 2011

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