Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 9158146 title "alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings." provenance.
- 22152683 title "Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans" provenance.
- 24360810 title "A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects" provenance.
- 3574673 title "Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration." provenance.
- 9326952 title "Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome" provenance.
- 22608499 title "Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis." provenance.
- 21665002 title "A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis." provenance.
- 21907015 title "Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma." provenance.
- 20451169 title "Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate." provenance.
- 18306244 title "Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation." provenance.
- 20004881 title "Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene." provenance.
- 10587520 title "Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways" provenance.
- 8696333 title "A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis" provenance.
- 23707145 title "Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study." provenance.
- 7697714 title "Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)" provenance.
- 9697706 title "Missense mutations in desmin associated with familial cardiac and skeletal myopathy" provenance.
- 20440071 title "PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome" provenance.
- 22522446 title "Hereditary sensory autonomic neuropathy caused by a mutation in dystonin." provenance.
- 11013134 title "Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine" provenance.
- 24119684 title "Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4." provenance.
- 20110243 title "SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis" provenance.
- 11799394 title "Germline mutations in the ribonuclease L gene in families showing linkage with HPC1" provenance.
- 9731540 title "A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy" provenance.
- 10714363 title "Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations" provenance.
- 21763482 title "VPS35 mutations in Parkinson disease." provenance.
- 8252036 title "Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease" provenance.
- 8090165 title "Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man" provenance.
- 22577226 title "A human laterality disorder associated with recessive CCDC11 mutation." provenance.
- 11455388 title "Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico." provenance.
- 16465624 title "Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease" provenance.
- 7668255 title "A novel point mutation in a 3' splice site of the NADH-cytochrome b5 reductase gene results in immunologically undetectable enzyme and impaired NADH-dependent ascorbate regeneration in cultured fibroblasts of a patient with type II hereditary methemoglobinemia" provenance.
- 11668635 title "Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41." provenance.
- 22424600 title "Mutations in ROGDI Cause Kohlsch�tter-T�nz Syndrome" provenance.
- 10077649 title "Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia" provenance.
- 16086014 title "Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome." provenance.
- 2022736 title "A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin" provenance.
- 20691404 title "Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease" provenance.
- 16369531 title "Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction" provenance.
- 16415886 title "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome." provenance.
- 23022101 title "Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry." provenance.
- 9843207 title "A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis" provenance.
- 23487782 title "Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis" provenance.
- 24183449 title "WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-?B pathway in cilia." provenance.
- 18513680 title "Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle" provenance.
- 23543054 title "SLITRK6 mutations cause myopia and deafness in humans and mice" provenance.
- 11283793 title "Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway." provenance.
- 10642597 title "Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)" provenance.
- 14581620 title "Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features." provenance.
- 1302000 title "Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene" provenance.
- 21944047 title "Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion" provenance.
- 23063621 title "Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia." provenance.
- 9788845 title "Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene" provenance.
- 17236139 title "Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor" provenance.
- 22742743 title "Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates." provenance.
- 8968764 title "Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster" provenance.
- 17171570 title "A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss" provenance.
- 11145714 title "A deletion in the gene encoding the CD45 antigen in a patient with SCID." provenance.
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- 23104095 title "Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency" provenance.
- 16648851 title "Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease." provenance.
- 23348741 title "The LINC complex is essential for hearing." provenance.
- 23290074 title "Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2." provenance.
- 11714101 title "ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in xq13.1." provenance.
- 19726876 title "Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy." provenance.
- 19329487 title "A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage" provenance.
- 24139043 title "Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy." provenance.
- 23562820 title "Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy." provenance.
- 8977385 title "Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome." provenance.
- 12007193 title "Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas." provenance.
- 12446870 title "Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism" provenance.
- 19070573 title "Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death" provenance.
- 19026396 title "Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome" provenance.
- 16155570 title "Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development" provenance.
- 18976727 title "A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome" provenance.
- 16826525 title "ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia." provenance.
- 8640223 title "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast" provenance.
- 17455289 title "Mutation of a potassium channel-related gene in progressive myoclonic epilepsy." provenance.
- 12219090 title "Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes" provenance.
- 12627228 title "Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human" provenance.
- 11992252 title "Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy" provenance.
- 11805270 title "Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy." provenance.
- 12469120 title "Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis" provenance.
- 18451999 title "GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak." provenance.
- 16175511 title "Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa." provenance.
- 18955567 title "Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1." provenance.
- 12612584 title "Mutations in SOX2 cause anophthalmia." provenance.
- 17924338 title "A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy" provenance.
- 16604071 title "X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations." provenance.
- 18252228 title "FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta" provenance.
- 15235027 title "Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta" provenance.
- 17256792 title "IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus" provenance.
- 22581968 title "A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11? gene." provenance.
- 7842011 title "Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1" provenance.
- 11055895 title "Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis." provenance.
- 23246290 title "Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex" provenance.
- 22275001 title "Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation." provenance.
- 7874167 title "Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene." provenance.
- 23280837 title "Mutations in KCND3 cause spinocerebellar ataxia type 22." provenance.
- 21565611 title "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways." provenance.
- 18358451 title "Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease" provenance.