Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2.

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Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2. is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode2014PLoSO...9j1152L
P356DOI10.1371/JOURNAL.PONE.0101152
P932PMC publication ID4077761
P698PubMed publication ID24983964
P5875ResearchGate publication ID263586258

P2093author name stringJun Yu
Xin Li
Jiao Zhang
Yong-Biao Zhang
Qian Jin
Qingguo Zhang
Jintian Hu
Duen-Mei Wang
P2860cites workUnilateral microtia in an infant with trisomy 18 mosaicism.Q51622639
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Phenotypic variability in trisomy 13 mosaicism: two new patients and literature reviewQ83848917
Association of microtia with maternal obesity and periconceptional folic acid useQ85200763
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Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleQ21710712
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosisQ22253273
Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleusQ24294238
PedCheck: a program for identification of genotype incompatibilities in linkage analysisQ24539016
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.Q24655621
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)Q24675845
PLINK: a tool set for whole-genome association and population-based linkage analysesQ24677407
Merlin--rapid analysis of dense genetic maps using sparse gene flow treesQ27860829
Bapx1 regulates patterning in the middle ear: altered regulatory role in the transition from the proximal jaw during vertebrate evolutionQ28245935
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1Q28253884
Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor geneQ28344309
Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patientsQ28592076
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage resultsQ29547377
Mutations in KCTD1 cause scalp-ear-nipple syndromeQ30448494
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndromeQ30490281
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing lossQ30562543
Human articular chondrocytes express three facilitative glucose transporter isoforms: GLUT1, GLUT3 and GLUT9.Q30703137
Epidemiology and genetics of microtia-anotia: a registry based study on over one million birthsQ33676807
The epidemiology of anotia and microtiaQ33677865
Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial cleftingQ33681429
Computer-simulation methods in human linkage analysisQ33867255
Six family genes--structure and function as transcription factors and their roles in developmentQ33957333
Diabetes mellitus and birth defectsQ34803469
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16Q36477619
Proteomic, genomic and translational approaches identify CRMP1 for a role in schizophrenia and its underlying traitsQ36486743
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasiaQ37466158
Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literatureQ37862446
Family-based designs for genome-wide association studiesQ37883023
Inhibition of HTRA3 stimulates trophoblast invasion during human placental developmentQ39638080
Pedigree and genetic study of a bilateral congenital microtia familyQ43145507
Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007.Q43236451
Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrumQ46890453
Bapx1: an evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeletonQ48047641
Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal archQ48477512
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue7
P407language of work or nameEnglishQ1860
P921main subjectmicrotiaQ1759560
susceptibility locusQ62091149
P304page(s)e101152
P577publication date2014-07-01
P1433published inPLOS OneQ564954
P1476titleGenome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2.
P478volume9

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cites work (P2860)
Q36564672Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia
Q61443178Identification of sequence variants associated with severe microtia-astresia by targeted sequencing
Q35687114Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome

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