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... capture in a familial case identified a  homozygous 
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Alazami, Anas M.; Al-Qattan, Sarah M.; Faqeih, Eissa; Alhashem, Amal; Alshammari, Muneera; Alzahrani, Fatema; Al-Dosari, Mohammed S.; Patel, Nisha; Alsagheir, Afaf; Binabbas, Bassam; Alzaidan, Hamad; Alsiddiky, Abdulmonem; Alharbi, Nasser; Alfadhel, Majid; Kentab, Amal; Daza, Riza M.; Kircher, Martin; Shendure, Jay; Hashem, Mais; Alshahrani, Saif; Rahbeeni, Zuhair; Khalifa, Ola; Shaheen, Ranad; Alkuraya, Fowzan S.
truncating variant in a novel and ...
... 10.5/F/W t(8;21) (AML-M2) t(11;16) 0/18/  homozygous 
Polymorphisms in the MLL breakpoint cluster region (BCR)
Polymorphisms in the MLL breakpoint cluster region (BCR)
Echlin-Bell, Deborah R.; Smith, Lydia L.; Li, Loretta; Strissel, Pamela L.; Strick, Reiner; Gupta, Vandana; Banerjee, Jhula; Larson, Richard; Relling, Mary V.; Raimondi, Susan C.; Hayashi, Yasuhide; Taki, Tomohiko; Zeleznik-Le, Nancy; Rowley, Janet D.
-(GAA)5/5 UC-2 17/F/B Hodgkin's disease ...
... sex reversal, who was, surprisingly,  homozygous 
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion
Pop, Ramona; Zaragoza, Michael V.; Gaudette, Mara; Dohrmann, Ulrike; Scherer, Gerd
for the nonsense mutation Y440X. ...
... Case report Spastic diplegia 1 – –  Homozygous 
The genomic basis of cerebral palsy: a HuGE systematic literature review
The genomic basis of cerebral palsy: a HuGE systematic literature review
O’Callaghan, M. E.; MacLennan, A. H.; Haan, E. A.; Dekker, G.; The South Australian Cerebral Palsy Research Group
, severe acute chorioamnionitis FVL – – – ...
... phenotype. Here we describe the first  homozygous 
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction
Nallathambi, Jeyabalan; Moumné, Lara; Baere, Elfride; Beysen, Diane; Usha, Kim; Sundaresan, Periasamy; Veitia, Reiner A.
FOXL2 mutation leading to a polyalanine ...
... from Italy with NSHI, all of whom were  homozygous 
Connexin 26 35delG does not represent a mutational hotspot
Connexin 26 35delG does not represent a mutational hotspot
Rothrock, Caryn R.; Murgia, Alessandra; Sartorato, Edi L.; Leonardi, Emanuela; Wei, Sainan; Lebeis, Sarah L.; Yu, Laura E.; Elfenbein, Jill L.; Fisher, Rachel A.; Friderici, Karen H.
for the 35delG mutation, and 100 DNA ...
... and 12 Japanese patients who were  homozygous 
Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome
Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome
Maruo, Yoshihiro; D′ Addario, Carlos; Mori, Asami; Iwai, Masaru; Takahashi, Hiroko; Sato, Hiroshi; Takeuchi, Yoshihiro
for A(TA)7TAA. ...
... five reads identified only a single novel  homozygous 
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
Pohl, Esther; Aykut, Ayca; Beleggia, Filippo; Karaca, Emin; Durmaz, Burak; Keupp, Katharina; Arslan, Esra; Onay, Melis Palamar; Yigit, Gökhan; Özkinay, Ferda; Wollnik, Bernd
variant, c.497G>T, located in PAX1 that ...
... sequencing (WES), determination of  homozygous 
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
Schreml, Julia; Durmaz, Burak; Cogulu, Ozgur; Keupp, Katharina; Beleggia, Filippo; Pohl, Esther; Milz, Esther; Coker, Mahmut; Ucar, Sema Kalkan; Nürnberg, Gudrun; Nürnberg, Peter; Kuhn, Joachim; Ozkinay, Ferda
stretches by WES variants, and classical ...
... heterogeneity of ASD. Our strategy,  homozygous 
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Casey, Jillian P.; Magalhaes, Tiago; Conroy, Judith M.; Regan, Regina; Shah, Naisha; Anney, Richard; Shields, Denis C.; Abrahams, Brett S.; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J.; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Cali, Phil; Correia, Catarina; Corsello, Christina; Coutanche, Marc; Dawson, Geraldine; Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A.; Folstein, Susan E.; Foley, Suzanne; Fombonne, Eric; Freitag, Christine M.; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T.; Green, Jonathan; Guter, Stephen J.; Hakonarson, Hakon; Holt, Richard; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M.; Kolevzon, Alexander; Lamb, Janine A.; Leboyer, Marion; Couteur, Ann; Leventhal, Bennett L.; Lord, Catherine; Lund, Sabata C.; Maestrini, Elena; Mantoulan, Carine; Marshall, Christian R.; McConachie, Helen; McDougle, Christopher J.; McGrath, Jane; McMahon, William M.; Merikangas, Alison; Miller, Judith; Minopoli, Fiorella; Mirza, Ghazala K.; Munson, Jeff; Nelson, Stanley F.; Nygren, Gudrun; Oliveira, Guiomar; Pagnamenta, Alistair T.; Papanikolaou, Katerina; Parr, Jeremy R.; Parrini, Barbara; Pickles, Andrew; Pinto, Dalila; Piven, Joseph; Posey, David J.; Poustka, Annemarie; Poustka, Fritz; Ragoussis, Jiannis; Roge, Bernadette; Rutter, Michael L.; Sequeira, Ana F.; Soorya, Latha; Sousa, Inês; Sykes, Nuala; Stoppioni, Vera; Tancredi, Raffaella; Tauber, Maïté; Thompson, Ann P.; Thomson, Susanne; Tsiantis, John; Engeland, Herman; Vincent, John B.; Volkmar, Fred; Vorstman, Jacob A. S.; Wallace, Simon; Wang, Kai; Wassink, Thomas H.; White, Kathy; Wing, Kirsty; Wittemeyer, Kerstin; Yaspan, Brian L.; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D.; Cantor, Rita M.; Cook, Edwin H.; Coon, Hilary; Cuccaro, Michael L.; Geschwind, Daniel H.; Haines, Jonathan L.; Hallmayer, Joachim; Monaco, Anthony P.; Nurnberger, John I., Jr.; Pericak-Vance, Margaret A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Sutcliffe, James S.; Szatmari, Peter; Vieland, Veronica J.; Wijsman, Ellen M.; Green, Andrew; Gill, Michael; Gallagher, Louise; Vicente, Astrid; Ennis, Sean
haplotype (HH) mapping, aims to detect ...
... associated with the HFE p.C282Y  homozygous 
Factors influencing disease phenotype and penetrance in HFE haemochromatosis
Factors influencing disease phenotype and penetrance in HFE haemochromatosis
Rochette, J.; Le Gac, G.; Lassoued, K.; Férec, C.; Robson, K. J. H.
genotype, which is present in ...
... ancestral loss-of-function (LOF) variants  homozygous 
Revisiting disease genes based on whole-exome sequencing in consanguineous populations
Revisiting disease genes based on whole-exome sequencing in consanguineous populations
Shamia, Ahmed; Shaheen, Ranad; Sabbagh, Nouran; Almoisheer, Agaadir; Halees, Anason; Alkuraya, Fowzan S.
. ...
... with AA was confirmed to harbor a  homozygous 
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability
Shimada, Hiroyuki; Shimizu, Kimiko; Mimaki, Sachiyo; Sakiyama, Tokuki; Mori, Tetsuya; Shimasaki, Noriko; Yokota, Jun; Nakachi, Kei; Ohta, Tsutomu; Ohki, Misao
I171V mutation. ...
... to be dominantly acting. However, a  homozygous 
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy
Lucarini, Laura; Giusti, Betti; Zhang, Rui-Zhu; Pan, Te-Cheng; Jimenez-Mallebrera, Cecilia; Mercuri, Eugenio; Muntoni, Francesco; Pepe, Guglielmina; Chu, Mon-Li
A→G mutation at −10 of intron 12 was found ...
... a molecular diagnosis. Here we show that a  homozygous 
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
Kakar, Naseebullah; Ahmad, Jamil; Morris-Rosendahl, Deborah J.; Altmüller, Janine; Friedrich, Katrin; Barbi, Gotthold; Nürnberg, Peter; Kubisch, Christian; Dobyns, William B.; Borck, Guntram
truncating mutation of STIL not only ...
... wild type/mutant sequence and the  homozygous 
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder
Ahmed, Iltaf; Mittal, Kirti; Sheikh, Taimoor I.; Vasli, Nasim; Rafiq, Muhammad Arshad; Mikhailov, Anna; Ohadi, Mehrnaz; Mahmood, Huda; Rouleau, Guy A.; Bhatti, Attya; Ayub, Muhammad; Srour, Myriam; John, Peter; Vincent, John B.
mutant (c.153+2T>C) sequence. d Linkage ...
... describe how we have analyzed F508del-CFTR  homozygous 
Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6
Hierarchical fine mapping of the cystic fibrosis modifier locus on 19q13 identifies an association with two elements near the genes CEACAM3 and CEACAM6
Stanke, Frauke; Becker, Tim; Hedtfeld, Silke; Tamm, Stephanie; Wienker, Thomas F.; Tümmler, Burkhard
sib pairs with contrasting CF disease ...
... reduction in Striatin mRNA. Dogs that were  homozygous 
Genome-wide association identifies a deletion in the 3′ untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy
Genome-wide association identifies a deletion in the 3′ untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy
Meurs, Kathryn M.; Mauceli, Evan; Lahmers, Sunshine; Acland, Gregory M.; White, Stephen N.; Lindblad-Toh, Kerstin
for the deletion had a more severe form of ...
... malignancies revealed exclusively allele 1  homozygous 
A newly identified RET proto-oncogene polymorphism is found in a high number of endocrine tumor patients
A newly identified RET proto-oncogene polymorphism is found in a high number of endocrine tumor patients
Gartner, Wolfgang; Mineva, Ivelina; Daneva, Teodora; Baumgartner-Parzer, Sabina; Niederle, Bruno; Vierhapper, Heinrich; Weissel, Michael; Wagner, Ludwig
and allele 1/allele 2 heterozygous ...
... analyses and MRI brain imaging. A  homozygous 
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia
Marti-Masso, Jose Felix; Ruiz-Martínez, Javier; Makarov, Vladimir; Munain, Adolfo López; Gorostidi, Ana; Bergareche, Alberto; Yoon, Seungtai; Buxbaum, Joseph D.; Paisán-Ruiz, Coro
, disease-segregating mutation ...
... polymorphism arrays revealed a large  homozygous 
An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews
An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews
Zelinger, Lina; Greenberg, Alex; Kohl, Susanne; Banin, Eyal; Sharon, Dror
region of ~11 Mbp shared by both Arab ...
... exome/autozygome analysis identified a  homozygous 
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures
Tabarki, Brahim; AlMajhad, Nabil; AlHashem, Amal; Shaheen, Ranad; Alkuraya, Fowzan S.
frameshift duplication in KCNMA1 ...
... and a genomewide scan to identify a common  homozygous 
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22
Saba, Thomas G.; Montpetit, Alexandre; Verner, Andrei; Rioux, Pierre; Hudson, Thomas J.; Drouin, Régen; Drouin, Christian A.
region in affected individuals from three ...
... affected individuals in each family were  homozygous 
CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds
CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds
Bar-Yosef, Udy; Abuelaish, Izzeldin; Harel, Tamar; Hendler, Neta; Ofir, Rivka; Birk, Ohad S.
for a different CHX10 aberration: a ...
... 191 disease alleles were present in the  homozygous 
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Cooper, David N.; Krawczak, Michael; Polychronakos, Constantin; Tyler-Smith, Chris; Kehrer-Sawatzki, Hildegard
state in at least one individual, and ...

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