Published in Ultrastruct Pathol on October 26, 2007
Osteopetrosis. Orphanet J Rare Dis (2009) 3.69
Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency. J Biol Chem (2014) 0.81
IMGT unique numbering for immunoglobulin and T cell receptor variable domains and Ig superfamily V-like domains. Dev Comp Immunol (2003) 6.59
IMGT, the international ImMunoGeneTics information system. Nucleic Acids Res (2008) 5.42
IMGT, the international ImMunoGeneTics information system. Nucleic Acids Res (2005) 3.46
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 16-2003. A 58-year-old woman with left-sided weakness and a right frontal brain mass. N Engl J Med (2003) 2.39
IMGT unique numbering for immunoglobulin and T cell receptor constant domains and Ig superfamily C-like domains. Dev Comp Immunol (2005) 2.22
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
IMGT standardized criteria for statistical analysis of immunoglobulin V-REGION amino acid properties. J Mol Recognit (2004) 2.21
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med (2003) 2.17
Oncogenic EGFR signaling cooperates with loss of tumor suppressor gene functions in gliomagenesis. Proc Natl Acad Sci U S A (2009) 2.11
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med (2016) 2.09
Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 5-2004 - a 57-year-old man with slurred speech and left hemiparesis. N Engl J Med (2004) 2.04
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet (2007) 2.04
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease. Circ Cardiovasc Genet (2010) 1.92
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
Mutations in TREM2 lead to pure early-onset dementia without bone cysts. Hum Mutat (2008) 1.78
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. Am J Med Genet A (2004) 1.76
IMGT-ONTOLOGY for immunogenetics and immunoinformatics. In Silico Biol (2003) 1.61
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet (2006) 1.53
Impaired gastric acidification negatively affects calcium homeostasis and bone mass. Nat Med (2009) 1.52
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. J Allergy Clin Immunol (2012) 1.48
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet (2008) 1.41
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet (2008) 1.37
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. J Med Genet (2009) 1.32
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. J Clin Invest (2007) 1.29
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet (2009) 1.28
IMGT unique numbering for MHC groove G-DOMAIN and MHC superfamily (MhcSF) G-LIKE-DOMAIN. Dev Comp Immunol (2005) 1.24
Multicolored stain-free histopathology with coherent Raman imaging. Lab Invest (2012) 1.22
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat (2004) 1.21
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. J Invest Dermatol (2008) 1.08
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Hum Mutat (2014) 1.08
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. Am J Med Genet A (2005) 1.07
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. J Invest Dermatol (2009) 1.06
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol (2008) 1.05
Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Ophthalmic Genet (2004) 1.05
NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. FASEB J (2007) 1.04
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2. Hum Genet (2002) 1.04
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Eur J Hum Genet (2002) 1.01
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. J Bone Miner Res (2006) 1.01
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. Hered Cancer Clin Pract (2012) 1.00
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Hum Mutat (2010) 0.99
Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet (2010) 0.99
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. Neurogenetics (2002) 0.99
Primary intrapulmonary spindle cell thymoma with marked granulomatous reaction: report of a case with review of literature. Int J Surg Pathol (2003) 0.98
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Hum Genet (2002) 0.98
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet (2006) 0.98
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. Eur J Hum Genet (2010) 0.97
Human Gm, Km, and Am allotypes and their molecular characterization: a remarkable demonstration of polymorphism. Methods Mol Biol (2012) 0.97
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. BMC Med Genet (2004) 0.97
Adjuvant Gamma Knife radiosurgery following surgical resection of brain metastases: a 9-year retrospective cohort study. J Neurooncol (2009) 0.97
Severe malignant osteopetrosis caused by a GL gene mutation. J Bone Miner Res (2004) 0.96
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations. Eur J Hum Genet (2002) 0.95
Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity? Am J Med Genet A (2003) 0.94
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Med Genet (2006) 0.94
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet (2005) 0.93
Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. J Invest Dermatol (2004) 0.92
[Familial Mediterranean Fever (FMF): from diagnosis to treatment]. Sante (2005) 0.92
Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. PLoS One (2011) 0.91
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab (2007) 0.91
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. Eur J Hum Genet (2011) 0.91
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. Hum Mol Genet (2012) 0.90
Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation. Mol Vis (2012) 0.90
S100 protein expression distinguishes metanephric adenomas from other renal neoplasms. Pathol Res Pract (2008) 0.89
Distinctive association of p16INK4a overexpression with penile intraepithelial neoplasia depicting warty and/or basaloid features: a study of 141 cases evaluating a new nomenclature. Am J Surg Pathol (2010) 0.88
Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone. J Am Soc Nephrol (2005) 0.87
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22. Neurogenetics (2010) 0.86
Further delineation of the odonto-onycho-dermal dysplasia syndrome. Am J Med Genet A (2004) 0.86
Update in chronic obstructive pulmonary disease: role of antioxidant and metabolizing gene polymorphisms. Exp Lung Res (2011) 0.86
Histologic grade in penile squamous cell carcinoma: visual estimation versus digital measurement of proportions of grades, adverse prognosis with any proportion of grade 3 and correlation of a Gleason-like system with nodal metastasis. Am J Surg Pathol (2009) 0.86
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet J Rare Dis (2013) 0.86
Correlation of EPHX1, GSTP1, GSTM1, and GSTT1 genetic polymorphisms with antioxidative stress markers in chronic obstructive pulmonary disease. Exp Lung Res (2011) 0.85
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. Hum Mutat (2013) 0.85
A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease. J Bone Miner Res (2012) 0.85
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. Eur J Med Genet (2012) 0.85
Polymorphisms of the CLCN7 gene are associated with BMD in women. J Bone Miner Res (2005) 0.85
Hyperintense cortical signal on magnetic resonance imaging reflects focal leukocortical encephalitis and seizure risk in progressive multifocal leukoencephalopathy. Ann Neurol (2014) 0.85
Admixture and sexual bias in the population settlement of La Réunion Island (Indian Ocean). Am J Phys Anthropol (2008) 0.85
Chronic activation of wild-type epidermal growth factor receptor and loss of Cdkn2a cause mouse glioblastoma formation. Cancer Res (2011) 0.85
Epidermoid cyst of intrapancreatic accessory spleen. Dig Dis Sci (2007) 0.84
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. Am J Med Genet A (2004) 0.84
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet (2012) 0.84
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations. Eur J Endocrinol (2012) 0.83
Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations. Eur J Med Genet (2005) 0.83
Heterogeneous gene distribution reflects human genome complexity as detected at the cytogenetic level. Cancer Genet Cytogenet (2002) 0.83
Association Analysis of IL10, TNF-α, and IL23R-IL12RB2 SNPs with Behçet's Disease Risk in Western Algeria. Front Immunol (2013) 0.83
Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. J Allergy Clin Immunol (2012) 0.82
Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD). Genet Mol Biol (2010) 0.82
Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1. Eur J Hum Genet (2008) 0.82
Hemoglobinopathies in North Africa: a review. Hemoglobin (2010) 0.81