Matches in Nanopublications for { ?s <http://purl.org/dc/terms/title> ?o ?g. }
- 22766609 title "Homozygous null mutation in ODZ3 causes microphthalmia in humans" provenance.
- 17186470 title "Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia" provenance.
- 17186472 title "Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations." provenance.
- 23541340 title "Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease." provenance.
- 22197486 title "Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome" provenance.
- 9683588 title "Association of MSX1 and TGFB3 with nonsyndromic clefting in humans" provenance.
- 17226784 title "Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus" provenance.
- 18953341 title "Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans." provenance.
- 17924349 title "Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy" provenance.
- 16909394 title "Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis" provenance.
- 1371116 title "Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene" provenance.
- 17847007 title "Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia" provenance.
- 12065746 title "Biallelic inactivation of BRCA2 in Fanconi anemia" provenance.
- 15502827 title "X-linked inheritance of Fanconi anemia complementation group B" provenance.
- 12046007 title "Identification of microcephalin, a protein implicated in determining the size of the human brain" provenance.
- 18323416 title "Oncogenic CARD11 mutations in human diffuse large B cell lymphoma." provenance.
- 14676148 title "Sudden death associated with short-QT syndrome linked to mutations in HERG." provenance.
- 15133510 title "Mutations in SEC63 cause autosomal dominant polycystic liver disease" provenance.
- 16150725 title "Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the -174 IL-6 G/C polymorphism in children." provenance.
- 15824269 title "Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene" provenance.
- 18571142 title "FOXG1 is responsible for the congenital variant of Rett syndrome" provenance.
- 14595441 title "Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)." provenance.
- 22619378 title "Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)." provenance.
- 2349482 title "Identification of mutations in the COL4A5 collagen gene in Alport syndrome" provenance.
- 16462743 title "Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans." provenance.
- 19414485 title "X-linked cataract and Nance-Horan syndrome are allelic disorders." provenance.
- 8164741 title "Mutation in blood coagulation factor V associated with resistance to activated protein C." provenance.
- 10814726 title "Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)" provenance.
- 16960801 title "Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis" provenance.
- 9529362 title "Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis." provenance.
- 24268657 title "Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice" provenance.
- 19536174 title "A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR)." provenance.
- 2983225 title "Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus." provenance.
- 23275345 title "Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of Natriuretic Peptide Precursor A." provenance.
- 20887964 title "WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome" provenance.
- 8462096 title "Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans." provenance.
- 19005574 title "The EPHA2 gene is associated with cataracts linked to chromosome 1p" provenance.
- 22289416 title "Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome." provenance.
- 10986043 title "A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males." provenance.
- 22802087 title "Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A." provenance.
- 22405089 title "Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability." provenance.
- 12717434 title "Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex" provenance.
- 1975517 title "A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation" provenance.
- 21963259 title "XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription" provenance.
- 11845407 title "Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")" provenance.
- 19765682 title "A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles" provenance.
- 24207122 title "A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance" provenance.
- 9731525 title "PAK3 mutation in nonsyndromic X-linked mental retardation" provenance.
- 11544476 title "Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin." provenance.
- 22100072 title "Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia" provenance.
- 24207119 title "Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis" provenance.
- 23972372 title "Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome." provenance.
- 10615133 title "Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis" provenance.
- 22022284 title "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases" provenance.
- 1916828 title "A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)" provenance.
- 23749797 title "SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3." provenance.
- 16909393 title "UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome" provenance.
- 2385594 title "Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor." provenance.
- 9215682 title "Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)." provenance.
- 9398852 title "Donor splice-site mutations in WT1 are responsible for Frasier syndrome." provenance.
- 15746149 title "A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor" provenance.
- 18252232 title "Basal laminar drusen caused by compound heterozygous variants in the CFH gene." provenance.
- 23159249 title "Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome" provenance.
- 22351933 title "Agammaglobulinemia and absent B lineage cells in a patient lacking the p85? subunit of PI3K." provenance.
- 15723066 title "Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin" provenance.
- 22422768 title "Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human" provenance.
- 9345094 title "D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder" provenance.
- 1598912 title "Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome." provenance.
- 9843204 title "SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome" provenance.
- 21035105 title "SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system" provenance.
- 23395478 title "Mutations in MED12 cause X-linked Ohdo syndrome." provenance.
- 23518707 title "Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2" provenance.
- 11972037 title "Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22." provenance.
- 21596365 title "Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2." provenance.
- 17160906 title "The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome" provenance.
- 20170897 title "Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease." provenance.
- 11836357 title "The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly" provenance.
- 7987400 title "Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome" provenance.
- 7987400 title "Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome" provenance.
- 14660746 title "A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans" provenance.
- 24076603 title "Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism." provenance.
- 23910462 title "Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60" provenance.
- 20560209 title "Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome" provenance.
- 21990073 title "Menstrual cycle-dependent febrile episode mediated by sequence-specific repression of poly(ADP-ribose) polymerase-1 on the transcription of the human serotonin receptor 1A gene." provenance.
- 21278745 title "A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease" provenance.
- 17334708 title "Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase" provenance.
- 9202122 title "Congenital leptin deficiency is associated with severe early-onset obesity in humans" provenance.
- 17994020 title "Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia" provenance.
- 19363479 title "Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss." provenance.
- 23738509 title "Central precocious puberty caused by mutations in the imprinted gene MKRN3." provenance.
- 12640453 title "Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome" provenance.
- 12640453 title "Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome" provenance.
- 19182804 title "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia" provenance.
- 19126778 title "Dominant cataract formation in association with a vimentin assembly disrupting mutation." provenance.
- 8140421 title "Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine" provenance.
- 23830519 title "Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma." provenance.
- 2062380 title "Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy." provenance.
- 23063529 title "eIF2? mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation." provenance.
- 9425900 title "A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family" provenance.
- 8202715 title "Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci." provenance.