Published in J Pediatr on November 01, 1989
Sweet's syndrome--a comprehensive review of an acute febrile neutrophilic dermatosis. Orphanet J Rare Dis (2007) 5.21
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet (2005) 2.24
A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone (2005) 1.59
Autosomal recessive disorders among Arabs: an overview from Kuwait. J Med Genet (1994) 1.26
Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood (2013) 1.21
Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO). Pediatr Rheumatol Online J (2013) 1.17
Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis (2012) 1.17
Acute febrile neutrophilic dermatosis (Sweet's syndrome) in childhood and adolescence: two new patients and review of the literature on associated diseases. Eur J Pediatr (2008) 1.16
Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis. Curr Rheumatol Rep (2012) 1.12
The Central Role of Anti-IL-1 Blockade in the Treatment of Monogenic and Multi-Factorial Autoinflammatory Diseases. Front Immunol (2013) 1.11
Chronic recurrent multifocal osteomyelitis associated with chronic inflammatory bowel disease in children. Dig Dis Sci (1999) 1.08
On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. J Pediatr (2000) 1.08
Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling. Annu Rev Immunol (2015) 1.08
Lipins, lipinopathies, and the modulation of cellular lipid storage and signaling. Prog Lipid Res (2013) 1.06
A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. Arthritis Rheum (2011) 1.04
Granulomatous pyoderma preceding chronic recurrent multifocal osteomyelitis triggered by vaccinations in a two-year-old boy: a case report. J Med Case Rep (2010) 0.98
Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation. Rheum Dis Clin North Am (2013) 0.98
Autoinflammatory pustular neutrophilic diseases. Dermatol Clin (2013) 0.97
Biological treatments: new weapons in the management of monogenic autoinflammatory disorders. Mediators Inflamm (2013) 0.93
Mouse lipin-1 and lipin-2 cooperate to maintain glycerolipid homeostasis in liver and aging cerebellum. Proc Natl Acad Sci U S A (2012) 0.92
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues. Int J Rheumatol (2013) 0.91
Chronic recurrent multifocal osteomyelitis. J Clin Immunol (2013) 0.90
Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers. Curr Opin Rheumatol (2013) 0.88
Untangling the web of systemic autoinflammatory diseases. Mediators Inflamm (2014) 0.85
Autoinflammatory bone diseases. Rheum Dis Clin North Am (2013) 0.84
An update on autoinflammatory diseases. Curr Med Chem (2014) 0.79
New discoveries in CRMO: IL-1β, the neutrophil, and the microbiome implicated in disease pathogenesis in Pstpip2-deficient mice. Semin Immunopathol (2015) 0.79
Phenotypic Variability in Majeed Syndrome. J Rheumatol (2016) 0.78
Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation. J Exp Med (2016) 0.77
A systematic review of SAPHO syndrome and inflammatory bowel disease association. Dig Dis Sci (2013) 0.77
Inborn errors of metabolism underlying primary immunodeficiencies. J Clin Immunol (2014) 0.77
Neutrophilic dermatoses and autoinflammatory diseases with skin involvement-innate immune disorders. Semin Immunopathol (2015) 0.75
Dermatologic Manifestations of Monogenic Autoinflammatory Diseases. Dermatol Clin (2017) 0.75
Chronic Recurrent Multifocal Osteomyelitis and Related Diseases-Update on Pathogenesis. Curr Rheumatol Rep (2017) 0.75
[Chronic recurrent multifocal osteomyelitis of the spine : Children and adolescent]. Orthopade (2016) 0.75
EPONYM. Sweet syndrome. Eur J Pediatr (2010) 0.75
Hairpin and parallel quartet structures for telomeric sequences. Nucleic Acids Res (1992) 3.03
Hypogonadotropic hypogonadism, mental retardation, obesity and minor skeletal abnormalities: another new autosomal recessive syndrome from the Middle East. Am J Med Genet (1986) 1.92
Vascular clogging, mononuclear cell margination, and enhanced vascular permeability in the pathogenesis of human cerebral malaria. Am J Trop Med Hyg (1994) 1.91
High incidence of Bardet Biedl syndrome among the Bedouin. Clin Genet (1989) 1.91
Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J Med Genet (1985) 1.84
Consanguinity among the Kuwaiti population. Clin Genet (1985) 1.72
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Acta Paediatr (2003) 1.60
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin Genet (1988) 1.59
New syndrome?: MCA/MR syndrome with multiple circumferential skin creases. Am J Med Genet (1996) 1.53
Effect of alpha-thalassemia on sickle-cell anemia linked to the Arab-Indian haplotype in India. Am J Hematol (1997) 1.40
Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia. Am J Med Genet (1992) 1.40
Nablus mask-like facial syndrome. Am J Med Genet (2000) 1.39
A boy with the Rett syndrome? Brain Dev (1990) 1.38
A single mutation is responsible for the high prevalence of G6PD deficiency in the Vataliya Prajapatis--an endogamous caste group from Western India. Am J Hematol (2001) 1.37
Autosomal recessive nonsyndromal microcephaly with normal intelligence. Am J Med Genet (1987) 1.36
Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile. J Med Genet (1996) 1.34
Brucella arthritis: a study of 96 cases in Kuwait. Ann Rheum Dis (1990) 1.25
Congenital heart defects in Sotos syndrome. Am J Med Genet (1998) 1.23
The effect of consanguineous marriages on reproductive wastage. Clin Genet (1986) 1.22
Autosomal dominant sneezing disorder provoked by fullness of stomach. J Med Genet (1989) 1.19
Molecular pathogenesis and clinical variability of beta-thalassemia syndromes among Indians. Am J Hematol (2001) 1.18
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). J Med Genet (1994) 1.16
Potential of denaturing gradient gel electrophoresis for scanning of beta-thalassemia mutations in India. Am J Hematol (1999) 1.16
Disseminated tuberculosis: interesting hematological observations. J Assoc Physicians India (2010) 1.15
Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs. Clin Exp Rheumatol (2005) 1.14
Nonsyndromal anencephaly: possible autosomal recessive variant. Am J Med Genet (1986) 1.13
Altered plasma lipid pattern in falciparum malaria. Ann Trop Med Parasitol (1992) 1.11
Plasma antioxidants and lipid peroxidation products in falciparum malaria. Am J Trop Med Hyg (1993) 1.09
Pancytopenia in nutritional megaloblastic anaemia. A study from north-west India. Trop Geogr Med (1989) 1.08
Sandrow syndrome of mirror hands and feet and facial abnormalities. Am J Med Genet (1993) 1.08
Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype. J Med Genet (1999) 1.08
Anencephaly: disappearing in Kuwait? Lancet (1984) 1.07
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Clin Genet (2002) 1.04
False-positive serological tests in acute malaria. Br J Biomed Sci (2001) 1.04
Rifampicin-induced immune thrombocytopenia. Tuber Lung Dis (1996) 1.03
Varied distribution of RhD epitopes in the Indian population. Natl Med J India (2007) 1.03
Development of inhibitors in patients with haemophilia from India. Haemophilia (2001) 1.03
Poland sequence with dextrocardia: which comes first? Am J Med Genet (1997) 1.01
Experience with eosin-5'-maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders. Clin Lab Haematol (2003) 1.01
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families. Clin Genet (2008) 1.01
Vascular occlusion and disseminated intravascular coagulation in falciparum malaria. Br Med J (Clin Res Ed) (1985) 1.01
Transfusion transmitted diseases in haemophilics from western India. Indian J Med Res (2000) 0.99
Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. J Med Genet (1986) 0.98
Intracranial haemorrhage in severe haemophilia: prevalence and outcome in a developing country. Haemophilia (2005) 0.98
Limb/pelvis/uterus-hypoplasia/aplasia syndrome. J Med Genet (1993) 0.97
Brachmann-de Lange syndrome in sibs. J Med Genet (1987) 0.97
Hb Q(India) and its interaction with beta-thalassaemia: a study of 64 cases from India. Br J Biomed Sci (2007) 0.97
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Clin Genet (2007) 0.96
Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects. Am J Med Genet (2001) 0.96
Major blood group antigens--a determinant of factor VIII levels in blood? Thromb Haemost (1984) 0.95
Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25. J Med Genet (1986) 0.95
Group A streptococcal strains in Kuwait: a nine-year prospective study of prevalence and associations. Pediatr Infect Dis J (1992) 0.94
Feasibility of antenatal screening of beta-thalassemia in Mumbai, India. Acta Haematol (2001) 0.94
Autosomal dominant idiopathic scoliosis? Am J Med Genet (1995) 0.94
Multiple pterygium syndrome in five Arab sibs. Ann Genet (1987) 0.93
The leukaemias at presentation: clinical, demographic and cytologic variables. Indian J Cancer (1985) 0.93
Incisional hernia through iliac crest defects. A report of three cases with a review of the literature. Arch Orthop Trauma Surg (1989) 0.92
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J (1999) 0.92
Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females. Am J Med Genet (1985) 0.92
Autosomal recessive nonsyndromal hydrocephalus. Am J Med Genet (1988) 0.90
Hepatic changes in P. falciparum malaria. Indian J Malariol (1992) 0.90
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. J Med Genet (2000) 0.90
First-time development of FVIII inhibitor in haemophilia patients during the postoperative period. Haemophilia (2002) 0.90
Factor VIII and IX gene polymorphisms and carrier analysis in Indian population. Am J Hematol (1997) 0.89
Common human leucocyte antigen haplotypes in Indians--its implications in finding unrelated compatible bone marrow donors. Transfus Med (2002) 0.89
Seronegative spondarthritis and human leucocyte antigen association. Br J Biomed Sci (2002) 0.89
Effect of folate deficiency on the reproductive organs of female rhesus monkeys: a cytomorphological and cytokinetic study. J Nutr (1982) 0.88
Venous thromboembolism in young patients from western India: a study. Clin Appl Thromb Hemost (2001) 0.88
A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13. Clin Genet (2005) 0.88
Pancreatic ascites: rare complication of a common disease. J Assoc Physicians India (2009) 0.88
HLA associations in P. falciparum malaria patients from Mumbai, western India. Indian J Malariol (2003) 0.88
Anti-haemophilic globulin and salivary secretor status in healthy Indians. Med Lab Sci (1987) 0.88
Autoantibodies, immunoglobulins, complement and circulating immune complexes in acute malaria. Natl Med J India (1997) 0.87
Rett syndrome: genetic clues based on mitochondrial changes in muscle. Am J Med Genet (1989) 0.87
Systemic capillary leak syndrome preceding plasma cell leukaemia. Acta Haematol (2001) 0.87
Costello or facio-cutaneous-skeletal syndrome? Am J Med Genet (1993) 0.86
Giant Mantoux reaction. Indian J Med Microbiol (2009) 0.86
Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome? Am J Med Genet (2000) 0.85
Combined factor V and VIII deficiency in Indian population. Haemophilia (2000) 0.85
Platelet dysfunction in nutritional vitamin b(12) deficiency. Platelets (1991) 0.85
Clinical diversity of sickle cell disease in western india - influence of genetic factors. Acta Haematol (2000) 0.85
Meckel syndrome and neural tube defects in Kuwait. J Med Genet (1992) 0.85
Frequency of partial D in Western India. Transfus Med (2008) 0.85
Phenylketonuria in Kuwait and Arab countries. Eur J Pediatr (1987) 0.84
Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome? J Med Genet (1987) 0.84
Changes in platelet glycoprotein receptors after smoking--a flow cytometric study. Platelets (2001) 0.84
Novel HLA B*2714 and B*2708 allele associations in seronegative spondarthritis patients and haemophilia patients with chronic synovitis in India. Tissue Antigens (2003) 0.84
Rett syndrome: a mitochondrial disease? J Child Neurol (1990) 0.84
Spectrum of inherited bleeding disorders from Western India. Haematologia (Budap) (2002) 0.84
Hb D-Agri [beta9(A6)Ser --> Tyr;beta121(GH4)Glu --> Gln]: a new Indian hemoglobin variant with two amino acid substitutions in the same beta chain. Hemoglobin (2001) 0.83
The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23. Clin Genet (2004) 0.83
Haematological investigations in kala-azar patients in Bihar. Indian J Med Res (1979) 0.83
Malakoplakia of the prostate gland--report of two cases and review of the literature. Scand J Urol Nephrol (1996) 0.83
Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clin Dysmorphol (1994) 0.83
Milder bleeding tendency in Glanzmann's thrombasthenia patients inheriting HPA-1b in the homozygous state. J Thromb Haemost (2003) 0.83
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Res (1998) 0.83
Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients. J Thromb Haemost (2005) 0.83
Role of epsilon amino caproic acid in the management of haemophilic patients with inhibitors. Haemophilia (2004) 0.83
What syndrome is this? Chondroectodermal dysplasia--the Ellis-van Creveld syndrome. Pediatr Dermatol (2001) 0.83
The Duffy blood groups of Jarawas - the primitive and vanishing tribe of Andaman and Nicobar Islands of India. Transfus Med (2005) 0.83