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An autoinflammatory disease with deficiency of the interleukin-1–receptor antagonist
I Aksentijevich, SL Masters, PJ Ferguson, P Dancey, J Frenkel, ...
New England Journal of Medicine 360 (23), 2426-2437, 2009
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
PJ Ferguson, S Chen, MK Tayeh, L Ochoa, SM Leal, A Pelet, A Munnich, ...
Journal of medical genetics 42 (7), 551-557, 2005
Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture
NS Enattah, TGK Jensen, M Nielsen, R Lewinski, M Kuokkanen, ...
The American Journal of Human Genetics 82 (1), 57-72, 2008
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia
JR Hurvitz, WM Suwairi, W Van Hul, H El-Shanti, A Superti-Furga, ...
Nature genetics 23 (1), 94-98, 1999
The infevers autoinflammatory mutation online registry: update with new genes and functions
F Milhavet, L Cuisset, HM Hoffman, R Slim, H El‐Shanti, I Aksentijevich, ...
Human mutation 29 (6), 803-808, 2008
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2
S Amr, C Heisey, M Zhang, XJ Xia, KH Shows, K Ajlouni, A Pandya, ...
The American Journal of Human Genetics 81 (4), 673-683, 2007
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
AG Bassuk, RH Wallace, A Buhr, AR Buller, Z Afawi, M Shimojo, S Miyata, ...
The American Journal of Human Genetics 83 (5), 572-581, 2008
A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis
PJ Ferguson, X Bing, MA Vasef, LA Ochoa, A Mahgoub, TJ Waldschmidt, ...
Bone 38 (1), 41-47, 2006
Genetic disorders among Arab populations
AS Teebi
Springer Science & Business Media, 2010
Familial mediterranean fever in Arabs
H El-Shanti, HA Majeed, M El-Khateeb
The Lancet 367 (9515), 1016-1024, 2006
Familial Mediterranean fever in children: the expanded clinical profile
HA Majeed, M Rawashdeh, H El-Shanti, H Qubain, N Khuri-Bulos, ...
Qjm 92 (6), 309-318, 1999
Chronic recurrent multifocal osteomyelitis: a concise review and genetic update
HI El-Shanti, PJ Ferguson
Clinical Orthopaedics and Related Research® 462, 11-19, 2007
Autoinflammatory bone disorders
PJ Ferguson, HI El-Shanti
Current opinion in rheumatology 19 (5), 492-498, 2007
Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24. 3
K Wang, EW Pugh, S Griffen, KF Doheny, WZ Mostafa, MM al-Aboosi, ...
The American Journal of Human Genetics 68 (4), 1055-1060, 2001
Mutations in prickle orthologs cause seizures in flies, mice, and humans
H Tao, JR Manak, L Sowers, X Mei, H Kiyonari, T Abe, NS Dahdaleh, ...
The American Journal of Human Genetics 88 (2), 138-149, 2011
A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis
D Ahram, TS Sato, A Kohilan, M Tayeh, S Chen, S Leal, M Al-Salem, ...
The American Journal of Human Genetics 84 (2), 274-278, 2009
The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review
HA Majeed, M Al-Tarawna, H El-Shanti, B Kamel, F Al-Khalaileh
European journal of pediatrics 160, 705-710, 2001
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
H El-Shanti, AC Lidral, N Jarrah, L Druhan, K Ajlouni
The American Journal of Human Genetics 66 (4), 1229-1236, 2000
A splice site mutation confirms the role of LPIN2 in Majeed syndrome
ZS Al‐Mosawi, KK Al‐Saad, R Ijadi‐Maghsoodi, HI El‐Shanti, ...
Arthritis & Rheumatism 56 (3), 960-964, 2007
A novel mutation of IL1RN in the deficiency of interleukin‐1 receptor antagonist syndrome: Description of two unrelated cases from Brazil
AA Jesus, M Osman, CA Silva, PW Kim, TH Pham, M Gadina, B Yang, ...
Arthritis & Rheumatism 63 (12), 4007-4017, 2011
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