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Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeLRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromeDiscovery and functional analysis of a retinitis pigmentosa gene, C2ORF71Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaMutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceMutations in HPSE2 cause urofacial syndromeExome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthLRIG2 mutations cause urofacial syndromeBiallelic mutation of BEST1 causes a distinct retinopathy in humansTartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencyMutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movementsCompound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseThe primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features.Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.Mutations in HPSE2 Cause Urofacial Syndrome.Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance.Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndromeExpanding the clinical spectrum of SLC29A3 gene defectsFunctional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive BestrophinopathyIdentification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and FemalesReport of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jill E Urquhart
@nl
Jill E Urquhart
@sl
Jill E. Urquhart
@en
Jill E. Urquhart
@es
type
label
Jill E Urquhart
@nl
Jill E Urquhart
@sl
Jill E. Urquhart
@en
Jill E. Urquhart
@es
altLabel
Urquhart JE
@en
prefLabel
Jill E Urquhart
@nl
Jill E Urquhart
@sl
Jill E. Urquhart
@en
Jill E. Urquhart
@es
P1053
G-2282-2015
P106
P1153
15057311100
P21
P31
P3829
P496
0000-0002-5788-5511