| scholarly article | Q13442814 |
| P50 | author | Brian F Meyer | Q43256051 |
| Nada Al Tassan | Q55692651 | ||
| Fowzan S Alkuraya | Q66753922 | ||
| P2093 | author name string | Jose Morales | |
| Dania S Khalil | |||
| Prashant Bavi | |||
| Ali Al-Rajhi | |||
| Jameela M A Shinwari | |||
| Latifa Al-Sharif | |||
| Rahima A Al-Mahrouqi | |||
| P2860 | cites work | Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene | Q22010416 |
| ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome | Q24534081 | ||
| In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome | Q24678493 | ||
| Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome | Q28181842 | ||
| The ADAMTS metalloproteinases | Q29544428 | ||
| Weill-Marchesani syndrome in three generations | Q33856682 | ||
| Activation of the proteolytic activity of ADAMTS4 (aggrecanase-1) by C-terminal truncation | Q34109859 | ||
| Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains | Q34116077 | ||
| Revised diagnostic criteria for the Marfan syndrome | Q34389986 | ||
| Proteases in eye development and disease | Q36452773 | ||
| A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis | Q37156088 | ||
| The Marchesani syndrome. A brief review | Q39884105 | ||
| Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme | Q39970181 | ||
| Reduced or absent cyclin H expression is an independent prognostic marker for poor outcome in diffuse large B-cell lymphoma. | Q39993605 | ||
| Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders | Q40934983 | ||
| The characterisation of six ADAMTS proteases in the basal chordate Ciona intestinalis provides new insights into the vertebrate ADAMTS family | Q42478432 | ||
| Comparison of the 2005 growth charts for Saudi children and adolescents to the 2000 CDC growth charts. | Q44785042 | ||
| Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. | Q51921042 | ||
| Weill-Marchesani syndrome with bilateral angle-closure glaucoma. | Q54633906 | ||
| Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains | Q67482103 | ||
| Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes | Q68037805 | ||
| Weill-Marchesani syndrome in mother and son | Q68813994 | ||
| [Weill-Marchesani syndrome] | Q68831607 | ||
| Weill-Marchesani syndrome: report of an unusual case | Q73166857 | ||
| easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses | Q80526401 | ||
| Cardiac findings in Weill-Marchesani syndrome | Q80702048 | ||
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | myopia | Q168403 |
| ectopia lentis | Q1827028 | ||
| ectopia | Q10480798 | ||
| homozygosity | Q114049690 | ||
| P304 | page(s) | 558-568 | |
| P577 | publication date | 2009-11-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature | |
| P478 | volume | 85 |
| Q35873120 | A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17. |
| Q39531221 | A meta-analysis of reflux genome-wide association studies in 6750 Northern Europeans from the general population |
| Q34457006 | A novel missense mutation in ADAMTS10 in Norwegian Elkhound primary glaucoma |
| Q90283804 | A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family |
| Q96950430 | A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features |
| Q28084468 | ADAMTS proteins as modulators of microfibril formation and function |
| Q89049490 | ADAMTS proteins in human disorders |
| Q24297182 | ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts |
| Q64946887 | ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome. |
| Q90631954 | ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome |
| Q35797296 | ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis |
| Q37502202 | Adamts18 deletion results in distinct developmental defects and provides a model for congenital disorders of lens, lung, and female reproductive tract development. |
| Q42589829 | Alternative diagnoses with ectopia lentis |
| Q33700360 | An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures |
| Q34936970 | Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b |
| Q51119563 | Bilateral lens luxation and intracapsular lens extractions in a Matshchie's tree kangaroo. |
| Q39254939 | Biological functions of fucose in mammals |
| Q36918494 | Changes in posterior scleral collagen microstructure in canine eyes with an ADAMTS10 mutation |
| Q38387152 | Chondrodysplasias and TGFβ signaling |
| Q48318063 | Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development |
| Q54442301 | Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. |
| Q37711793 | Copy number variants in patients with short stature. |
| Q34441746 | Defining the role of common variation in the genomic and biological architecture of adult human height |
| Q87285382 | Elastic fibres in health and disease |
| Q33886716 | Engineering HIV-resistant human CD4+ T cells with CXCR4-specific zinc-finger nucleases |
| Q92542941 | Extracellular Matrix Composition and Remodeling: Current Perspectives on Secondary Palate Formation, Cleft Lip/Palate, and Palatal Reconstruction |
| Q26851287 | Extracellular matrix in the trabecular meshwork: intraocular pressure regulation and dysregulation in glaucoma |
| Q38903109 | FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders |
| Q34266726 | Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation |
| Q64077240 | Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors |
| Q34469801 | Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions |
| Q41677280 | Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome |
| Q36750385 | Genes, pathways, and animal models in primary open-angle glaucoma |
| Q26823452 | Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function |
| Q36526049 | Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012. |
| Q64098554 | Genetic regulation of linear growth |
| Q28654826 | Genetics and genomic medicine in Saudi Arabia |
| Q38153726 | Genetics of ectopia lentis |
| Q55426160 | Genome data uncover four synergistic key regulators for extremely small body size in horses. |
| Q52332092 | Genome-Wide Association Analyses Identify New Loci Influencing Intraocular Pressure. |
| Q90397852 | Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation |
| Q64052483 | Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma |
| Q24306796 | Human eye development is characterized by coordinated expression of fibrillin isoforms |
| Q35959660 | Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome |
| Q37298462 | Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome. |
| Q27342641 | Influence of Age on Ocular Biomechanical Properties in a Canine Glaucoma Model with ADAMTS10 Mutation |
| Q47701145 | Insight into the molecular genetics of myopia |
| Q26853412 | Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics |
| Q55670705 | LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix |
| Q45920760 | Linking cellular zinc status to body weight and fat mass: mapping quantitative trait loci in Znt7 knockout mice. |
| Q92026142 | Loss of ADAMTS19 causes progressive non-syndromic heart valve disease |
| Q28477176 | Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma |
| Q57082617 | Matrix Proteases and the Degradome |
| Q36184322 | Matrix-dependent perturbation of TGFβ signaling and disease |
| Q35780161 | Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology |
| Q27335289 | Microenvironmental regulation by fibrillin-1 |
| Q37595086 | Molecular pathogenesis and management strategies of ectopia lentis |
| Q28238918 | Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome |
| Q24294868 | Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans |
| Q50521211 | Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. |
| Q37419705 | Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome |
| Q37785141 | O-Fucosylation of Thrombospondin Type 1 Repeats |
| Q45872509 | Open-angle glaucoma: therapeutically targeting the extracellular matrix of the conventional outflow pathway |
| Q36867969 | Organ Length Control by an ADAMTS Extracellular Protease in Caenorhabditis elegans |
| Q91711671 | Polymorphisms of the BARX1 and ADAMTS17 Locus Genes in Individuals With Gastroesophageal Reflux Disease |
| Q64066701 | Primary angle-closure glaucoma with goniodysgenesis in a Beagle dog |
| Q92256627 | Profile of Matrix-Remodeling Proteinases in Osteoarthritis: Impact of Fibronectin |
| Q35952790 | Retinal vascular tortuosity in a patient with weill-marchesani syndrome |
| Q96136359 | Revealing hidden genetic diagnoses in the ocular anterior segment disorders |
| Q38987499 | Sp1 is necessary for gene activation of Adamts17 by estrogen |
| Q61809010 | Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome |
| Q21146633 | The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family |
| Q28246781 | The ADAMTS(L) family and human genetic disorders |
| Q26773190 | The Function and Roles of ADAMTS-7 in Inflammatory Diseases |
| Q38836230 | The lens growth process. |
| Q27687896 | The metalloproteinase ADAMTS1: a comprehensive review of its role in tumorigenic and metastatic pathways |
| Q49060891 | The new Ghent criteria for Marfan syndrome: what do they change? |
| Q98897004 | The quest for substrates and binding partners: A critical barrier for understanding the role of ADAMTS proteases in musculoskeletal development and disease |
| Q43450809 | Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia |
| Q35810620 | Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog. |
| Q37630738 | Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease. |
| Q33753825 | Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome |
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