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... and osteopenia were revealed in the  homozygous 
Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice
Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice
Kemter, Elisabeth; Rathkolb, Birgit; Becker, Lore; Bolle, Ines; Busch, Dirk H; Dalke, Claudia; Elvert, Ralf; Favor, Jack; Graw, Jochen; Hans, Wolfgang; Ivandic, Boris; Kalaydjiev, Svetoslav; Klopstock, Thomas; Rácz, Ildikó; Rozman, Jan; Schrewe, Anja; Schulz, Holger; Zimmer, Andreas; Fuchs, Helmut; Gailus-Durner, Valérie; de Angelis, Martin Hrabé; Wolf, Eckhard; Aigner, Bernhard
mutant mice which were also described in ...
... CbCln3 wild-type, heterozygous, and  homozygous 
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
Fossale, Elisa; Wolf, Pavlina; Espinola, Janice A; Lubicz-Nawrocka, Tanya; Teed, Allison M; Gao, Hanlin; Rigamonti, Dorotea; Cattaneo, Elena; MacDonald, Marcy E; Cotman, Susan L
neuronal precursor cell lines, which can ...
... PCCA c.425G > A(p. Gly142Asp) Founder  Homozygous 
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
Alfadhel, Majid; Benmeakel, Mohammed; Hossain, Mohammad Arif; Al Mutairi, Fuad; Al Othaim, Ali; Alfares, Ahmed A.; Al Balwi, Mohammed; Alzaben, Abdullah; Eyaid, Wafaa
, missense c.350G > A (p.Gly117Asp) ...
... generated from mouse tissues bearing the  homozygous 
Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum
Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum
Mahmood, Saqib; Ahmad, Wasim; Hassan, Muhammad J
gene trap mutation display the cellular ...
... compromise juvenile survival. A scan for  homozygous 
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle
Schwarzenbacher, Hermann; Burgstaller, Johann; Seefried, Franz R.; Wurmser, Christine; Hilbe, Monika; Jung, Simone; Fuerst, Christian; Dinhopl, Nora; Weissenböck, Herbert; Fuerst-Waltl, Birgit; Dolezal, Marlies; Winkler, Reinhard; Grueter, Oskar; Bleul, Ulrich; Wittek, Thomas; Fries, Ruedi; Pausch, Hubert
haplotype deficiency revealed a short ...
... of homozygotes. Results A scan for  homozygous 
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle
Pausch, Hubert; Schwarzenbacher, Hermann; Burgstaller, Johann; Flisikowski, Krzysztof; Wurmser, Christine; Jansen, Sandra; Jung, Simone; Schnieke, Angelika; Wittek, Thomas; Fries, Ruedi
haplotype deficiency in 25,544 Fleckvieh ...
... reactions, permits resolution of  homozygous 
Two-temperature LATE-PCR endpoint genotyping
Two-temperature LATE-PCR endpoint genotyping
Sanchez, J Aquiles; Abramowitz, Jessica D; Salk, Jesse J; Reis, Arthur H, Jr; Rice, John E; Pierce, Kenneth E; Wangh, Lawrence J
and heterozygous genotypes based on ...
... of contiguous homozygosity (runs of  homozygous 
hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets
hzAnalyzer: detection, quantification, and visualization of contiguous homozygosity in high-density genotyping datasets
Johnson, Todd A; Niimura, Yoshihito; Tanaka, Hiroshi; Nakamura, Yusuke; Tsunoda, Tatsuhiko
loci) in human genotyping datasets is ...
... approach to identify a subset of  homozygous 
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation
An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation
Preeprem, Thanawadee; Gibson, Greg
non-synonymous single nucleotide ...
... promoter was able to restore growth of  homozygous 
Requirement of proline synthesis during Arabidopsis reproductive development
Requirement of proline synthesis during Arabidopsis reproductive development
Funck, Dietmar; Winter, Gudrun; Baumgarten, Lukas; Forlani, Giuseppe
p5cr mutant embryos. ...
... pain was reported more often in patients  homozygous 
Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever
Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever
Kilic, Ayse; Varkal, Muhammet Ali; Durmus, Mehmet Sait; Yildiz, Ismail; Yıldırım, Zeynep Nagihan Yürük; Turunc, Gorkem; Oguz, Fatma; Sidal, Mujgan; Omeroglu, Rukiye Eker; Emre, Sevinc; Yilmaz, Yasin; Kelesoglu, Fatih Mehmet; Gencay, Genco Ali; Temurhan, Sonay; Aydin, Filiz; Unuvar, Emin
for M694V (61.4 %). ...
... Wild-type mice and mice heterozygous or  homozygous 
Impact of the factor V Leiden mutation on the outcome of pneumococcal pneumonia: a controlled laboratory study
Impact of the factor V Leiden mutation on the outcome of pneumococcal pneumonia: a controlled laboratory study
Schouten, Marcel; van't Veer, Cornelis; Roelofs, Joris JTH; Levi, Marcel; van der Poll, Tom
for the FVL mutation were infected ...
... GCD2-heterozygous (n = 1), and GCD2-  homozygous 
Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts
Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts
Maeng, Yong-Sun; Lee, Ga-Hyun; Choi, Seung-Il; Kim, Kyu Seo; Kim, Eung Kweon
(n = 3) primary human corneal fibroblasts ...
... transgenic plants is the selection of  homozygous 
Fast-tracking development of homozygous transgenic cereal lines using a simple and highly flexible real-time PCR assay
Fast-tracking development of homozygous transgenic cereal lines using a simple and highly flexible real-time PCR assay
Mieog, Jos C; Howitt, Crispin A; Ral, Jean-Philippe
plants. ...
... significance of cats being heterozygous or  homozygous 
Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation - the clinical significance of having the mutation
Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation - the clinical significance of having the mutation
Godiksen, Mia TN; Granstrøm, Sara; Koch, Jørgen; Christiansen, Michael
for the mutation with respect to ...
... standard type, heterozygous columnar and  homozygous 
Columnar apple primary roots share some features of the columnar-specific gene expression profile of aerial plant parts as evidenced by RNA-Seq analysis
Columnar apple primary roots share some features of the columnar-specific gene expression profile of aerial plant parts as evidenced by RNA-Seq analysis
Petersen, Romina; Djozgic, Haris; Rieger, Benjamin; Rapp, Steffen; Schmidt, Erwin Robert
columnar apple (Malus x domestica) by ...
... lead to detection of non-tumor specific  homozygous 
Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays
Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays
Staaf, Johan; Lindgren, David; Vallon-Christersson, Johan; Isaksson, Anders; Göransson, Hanna; Juliusson, Gunnar; Rosenquist, Richard; Höglund, Mattias; Borg, Åke; Ringnér, Markus
regions based solely on the marker ...
... position is represented by "X” while a  homozygous 
iXora: exact haplotype inferencing and trait association
iXora: exact haplotype inferencing and trait association
Utro, Filippo; Haiminen, Niina; Livingstone, Donald, III; Cornejo, Omar E; Royaert, Stefan; Schnell, Raymond J; Motamayor, Juan Carlos; Kuhn, David N; Laxmi, Parida
position is chosen to be 0. ...
... apparent), 8 of 50 dogs were found to be  homozygous 
A retrospective study of the prevalence of the canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK
A retrospective study of the prevalence of the canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK
Holder, Angela L; Price, James A; Adams, Jamie P; Volk, Holger A; Catchpole, Brian
and a further 19 were heterozygous for the ...
... locus where one of the individuals is  homozygous 
Rapid haplotype inference for nuclear families
Rapid haplotype inference for nuclear families
Williams, Amy L; Housman, David E; Rinard, Martin C; Gifford, David K
. ...
... expression of YWHAQ (14-3-3-theta).  Homozygous 
Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors
Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors
Heidenblad, Markus; Lindgren, David; Jonson, Tord; Liedberg, Fredrik; Veerla, Srinivas; Chebil, Gunilla; Gudjonsson, Sigurdur; Borg, Åke; Månsson, Wiking; Höglund, Mattias
deletions were identified at 10 different ...
... progeny (and thereby ignored or considered  homozygous 
Microsatellite allele dose and configuration establishment (MADCE): an integrated approach for genetic studies in allopolyploids
Microsatellite allele dose and configuration establishment (MADCE): an integrated approach for genetic studies in allopolyploids
van Dijk, Thijs; Noordijk, Yolanda; Dubos, Tiphaine; Bink, Marco CAM; Meulenbroek, Bert J; Visser, Richard GF; van de Weg, Eric
when using conventional approaches), six ...
... individuals by increasing the frequency of  homozygous 
Identification of genomic regions associated with inbreeding depression in Holstein and Jersey dairy cattle
Identification of genomic regions associated with inbreeding depression in Holstein and Jersey dairy cattle
Pryce, Jennie E; Haile-Mariam, Mekonnen; Goddard, Michael E; Hayes, Ben J
deleterious recessive alleles. ...
... AS11 seed vs WT. Co-incident  homozygous 
Triacylglycerol synthesis by PDAT1 in the absence of DGAT1 activity is dependent on re-acylation of LPC by LPCAT2
Triacylglycerol synthesis by PDAT1 in the absence of DGAT1 activity is dependent on re-acylation of LPC by LPCAT2
Xu, Jingyu; Carlsson, Anders S; Francis, Tammy; Zhang, Meng; Hoffman, Travis; Giblin, Michael E; Taylor, David C
knockout lines of dgat1/lpcat2 exhibited ...
... markers to distinguish heterozygous from  homozygous 
Identification and fine-mapping of a QTL, qMrdd1, that confers recessive resistance to maize rough dwarf disease
Identification and fine-mapping of a QTL, qMrdd1, that confers recessive resistance to maize rough dwarf disease
Tao, Yongfu; Liu, Qingcai; Wang, Honghong; Zhang, Yanjun; Huang, Xinyi; Wang, Baobao; Lai, Jinsheng; Ye, Jianrong; Liu, Baoshen; Xu, Mingliang
genotypes at the six candidate regions. ...

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