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51

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

52

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

53

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

Year:

2012

Language:

english

File:

PDF, 115 KB

english, 2012

54

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

55

Study of consanguineous populations can improve the annotation of SNP databases

Hanan E. Shamseldin, Mohammed Al-Dosari, Latifa Al-Jbali, Zuhair Rahbeeni, Alya Qari, Mais Hashem, Fowzan S. Alkuraya

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 445 KB

english, 2011

56

Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma

Rachida A. Bouhenni, Sami Al Shahwan, Jose Morales, Bassam T. Wakim, Anthony M. Chomyk, Fowzan S. Alkuraya, Deepak P. Edward

Journal:

Experimental Eye Research

Year:

2011

Language:

english

File:

PDF, 300 KB

english, 2011

57

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype

Ahmed Alsalem, Ranad Shaheen, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 477 KB

english, 2012

58

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Arif O. Khan, Lama Al-Abdi, Jawahir Y. Mohamed, Mohammed A. Aldahmesh, Fowzan S. Alkuraya

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2011

Language:

english

File:

PDF, 66 KB

english, 2011

59

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

60

Saudi genetic ophthalmology research: The local and global impact

Fowzan S. Alkuraya

Journal:

Saudi Journal of Ophthalmology

Year:

2010

Language:

english

File:

PDF, 280 KB

english, 2010

61

No evidence for rare pathological SIAE coding variants in patients with vitiligo

Nouf Al-Yami, Latifa Al-Jbali, Khalid M AlGhamdi, Fowzan S. Alkuraya

Journal:

International Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 67 KB

english, 2012

62

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W)

Khan, Arif O., Safieh, Leen Abu, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2010

Language:

english

File:

PDF, 1004 KB

english, 2010

63

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

Mohamed, Jawahir Y., Faqeih, Eissa, Alsiddiky, Abdulmonem, Alshammari, Muneera J., Ibrahim, Niema A., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 804 KB

english, 2013

64

Weaver syndrome and defective cortical development: A rare association

Al-Salem, Ahmed, Alshammari, Muneera J., Hassan, Hamdy, Alazami, Anas M., Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 161 KB

english, 2013

65

Autozygosity Mapping with Exome Sequence Data

Carr, Ian M., Bhaskar, Sanjeev, O’ Sullivan, James, Aldahmesh, Mohammed A., Shamseldin, Hanan E., Markham, Alexander F., Bonthron, David T., Black, Graeme, Alkuraya, Fowzan S.

Journal:

Year:

2013

Language:

english

File:

PDF, 605 KB

english, 2013

66

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:

Year:

2012

Language:

english

File:

PDF, 447 KB

english, 2012

67

Molecular pathogenesis of fibrochondrogenesis: Is it really simple COL11A1 deficiency?

Fatema Alzahrani, Muneera J. Alshammari, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 447 KB

english, 2012

68

Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain

Asma Sunker, Fowzan S. Alkuraya

Journal:

Year:

2013

Language:

english

File:

PDF, 537 KB

english, 2013

69

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

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

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2012

Language:

english

File:

PDF, 63 KB

english, 2012

70

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

Mohammed Zein Seidahmed, Mustafa A Salih, Omer B Abdulbasit, Meeralebbae Shaheed, Khalid Al Hussein, Abeer M Miqdad, Abdullah K Al Rasheed, Anas M Alazami, Ibrahim A Alorainy, Fowzan S Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 345 KB

english, 2012

71

Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36

Al-Qattan, Mohammad M., Shamseldin, Hanan E., Al Mazyad, Mohammed, Al Deghaither, Saud, Alkuraya, Fowzan S.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 249 KB

english, 2013

72

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

Fowzan S. Alkuraya

Journal:

Year:

2013

Language:

english

File:

PDF, 607 KB

english, 2013

73

A truncating mutation inB3GNT1causes severe Walker–Warburg syndrome

Ranad Shaheen, Eissa Faqeih, Shinu Ansari, Fowzan S. Alkuraya

Journal:

Year:

2013

Language:

english

File:

PDF, 200 KB

english, 2013

74

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

Eyaid, Wafaa, Al Harbi, Talal, Anazi, Shamsa, Wamelink, Mirjam M. C., Jakobs, Cornelis, Al Salammah, Mohammad, Al Balwi, Mohammed, Alfadhel, Majid, Alkuraya, Fowzan S.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 461 KB

english, 2013

75

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

76

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

77

Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome

Shamseldin, Hanan E., Rajab, Anna, Alhashem, Amal, Shaheen, Ranad, Al-Shidi, Tarfa, Alamro, Rana, Al Harassi, Salma, Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.33 MB

english, 2013

78

A Novel Homozygous Mutation inG6PC3Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family

Alangari, Abdullah A., Alsultan, Abdulrahman, Osman, Mohamed Elfaki, Anazi, Shamsa, Alkuraya, Fowzan S.

Journal:

Journal of Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 190 KB

english, 2013

79

Biometric and Molecular Characterization of Clinically Diagnosed Posterior Microphthalmos

Nowilaty, Sawsan R., Khan, Arif O., Aldahmesh, Mohammed A., Tabbara, Khalid F., Al-Amri, Abdullah, Alkuraya, Fowzan S.

Journal:

American Journal of Ophthalmology

Year:

2013

Language:

english

File:

PDF, 1.73 MB

english, 2013

80

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

Zahrani, Fatema, Aldahmesh, Mohammed A., Alshammari, Muneera J., Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 596 KB

english, 2013

81

C19orf12 mutation leads to a pallido-pyramidal syndrome

Kruer, Michael C., Salih, Mustafa A., Mooney, Catherine, Alzahrani, Jawahir, Elmalik, Salah A., Kabiraj, Mohammad M., Khan, Arif O., Paudel, Reema, Houlden, Henry, Azzedine, Hamid, Alkuraya, Fowzan

Journal:

Year:

2014

Language:

english

File:

PDF, 876 KB

english, 2014

82

Juvenile Cataract Morphology in 3 Siblings Not Yet Diagnosed with Cerebrotendinous Xanthomatosis

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

Journal:

Year:

2013

Language:

english

File:

PDF, 1.00 MB

english, 2013

83

Author index for volume 2

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

Journal:

Journal of Stroke and Cerebrovascular Diseases

Year:

1992

File:

PDF, 156 KB

1992

84

Congenital glaucoma with acquired peripheral circumferential iris degeneration

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, 380 KB

english, 2013

85

Lenticular changes in cerebrotendinous xanthomatosis, a treatable metabolic disorder that is important to recognize

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

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2013

Language:

english

File:

PDF, 43 KB

english, 2013

86

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

87

The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

Khan, Arif O., Shaheen, Ranad, Alkuraya, Fowzan S.

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2014

Language:

english

File:

PDF, 1024 KB

english, 2014

88

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

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

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 685 KB

english, 2012

89

Homozygosity mapping: One more tool in the clinical geneticist's toolbox

Alkuraya, Fowzan S

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 286 KB

english, 2010

90

Phenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome)

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

Journal:

Ophthalmic Genetics

Year:

2012

Language:

english

File:

PDF, 1.03 MB

english, 2012

91

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

Alazami, Anas M., Seidahmed, Mohammed Zain, Alzahrani, Fatema, Mohammed, Adam O., Alkuraya, Fowzan S.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 1.13 MB

english, 2014

92

Ciliary Genes TBC1D32 / C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX

Adly, Nouran, Alhashem, Amal, Ammari, Amer, Alkuraya, Fowzan S.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.23 MB

english, 2014

93

Genetics and genomic medicine in Saudi Arabia

Alkuraya, Fowzan S.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 566 KB

english, 2014

94

Human knockout research: new horizons and opportunities

Alkuraya, Fowzan S.

Journal:

Trends in Genetics

Year:

2015

Language:

english

File:

PDF, 593 KB

english, 2015

95

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

96

Methylation-Specific Multiplex-Ligation-Dependent Probe Amplification as a Rapid Molecular Diagnostic Tool for Pseudohypoparathyroidism Type 1b

Alsum, Zobaida, Safieh, Leen Abu, Nygren, Anders O.H., Al-Hamed, Mohammed A., Alkuraya, Fowzan S.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 13.39 MB

english, 2010

97

The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18

Aldahmesh, Mohammed A., Alshammari, Muneera J., Khan, Arif O., Mohamed, Jawahir Y., Alhabib, Fatimah A., Alkuraya, Fowzan S.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.43 MB

english, 2013

98

Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

Khan, Arif O., Aldahmesh, Mohammed A., Alsharif, Hadeel, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2015

Language:

english

File:

PDF, 265 KB

english, 2015

99

Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype

Khan, Arif O., Aldahmesh, Mohammed A., Al-Abdi, Lama, Mohamed, Jawahir Y., Hashem, Mais, Al-Ghamdi, Ismael, Alkuraya, Fowzan S.

Journal:

Ophthalmic Genetics

Year:

2011

Language:

english

File:

PDF, 729 KB

english, 2011

100

Homozygous null mutation in ODZ3 causes microphthalmia in humans

Aldahmesh, Mohammed A., Mohammed, Jawahir Y., Al-Hazzaa, Selwa, Alkuraya, Fowzan S.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 654 KB

english, 2012