Works matching DE "HUMAN deletion mutation"

Results: 54

The Promise and Practice of Genetics on Diabetes Care: The Fog Rises to Reveal a Field of Genetic Complexity in .

Published in:

2017

By:

Rich, Stephen S.

Publication type:

journal article

Identification of a novel PAX6 mutation in a Chinese family with aniridia.

Published in:

2019

By:

Qiu, Jing-Jing;
Zhang, Qian;
Geng, Zi-xin;
Liu, Min;
Zhong, Zi-lin;
Chen, Jian-jun;
Liu, Fei

Publication type:

journal article

Chromosome arm 1q gain is an adverse prognostic factor in localized and diffuse leptomeningeal glioneuronal tumors with BRAF gene fusion and 1p deletion.

Published in:

2019

By:

Chiang, Jason;
Dalton, James;
Upadhyaya, Santhosh A.;
Patay, Zoltán;
Qaddoumi, Ibrahim;
Li, Xiaoyu;
Segura, Annette D.;
Sharma, Suash;
Ismail, Azzam;
Shurtleff, Sheila A.;
Raimondi, Susana C.

Publication type:

Case Study

Genetic polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/ cisplatin chemotherapy.

Published in:

Journal of Experimental & Clinical Cancer Research (17569966), 2015, v. 34, n. 1, p. 1, doi. 10.1186/s13046-015-0124-y

By:

Tecza, Karolina;
Pamula-Pilat, Jolanta;
Kolosza, Zofia;
Radlak, Natalia;
Grzybowska, Ewa

Publication type:

Article

Chromosome 9p deletion in clear cell renal cell carcinoma predicts recurrence and survival following surgery.

Published in:

British Journal of Cancer, 2014, v. 111, n. 7, p. 1381, doi. 10.1038/bjc.2014.420

By:

El-Mokadem, I;
Fitzpatrick, J;
Bondad, J;
Nabi, G;
Rauchhaus, P;
Cunningham, J;
Pratt, N;
Fleming, S

Publication type:

Article

Copy-neutral loss of heterozygosity and chromosome gains and losses are frequent in gastrointestinal stromal tumors.

Published in:

Molecular Cancer, 2014, v. 13, n. 1, p. 1, doi. 10.1186/1476-4598-13-246

By:

Lourenço, Nelson;
Hélias-Rodzewicz, Zofia;
Bachet, Jean-Baptiste;
Brahimi-Adouane, Sabrina;
Jardin, Fabrice;
van Nhieu, Jeanne Tran;
Peschaud, Frédérique;
Martin, Emmanuel;
Beauchet, Alain;
Chibon, Frédéric;
Emile, Jean-François

Publication type:

Article

Prioritizing Therapeutics for Lung Cancer: An Integrative Meta-analysis of Cancer Gene Signatures and Chemogenomic Data.

Published in:

PLoS Computational Biology, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pcbi.1004068

By:

Fortney, Kristen;
Griesman, Joshua;
Kotlyar, Max;
Pastrello, Chiara;
Angeli, Marc;
Sound-Tsao, Ming;
Jurisica, Igor

Publication type:

Article

Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance.

Published in:

Archives of Plastic Surgery, 2014, v. 41, n. 4, p. 344, doi. 10.5999/aps.2014.41.4.344

By:

Spruijt, Nicole E.;
Kon, Moshe;
van der Molen, Aebele B. Mink

Publication type:

Article

Genetic Analysis of Familial Spontaneous Pneumothorax in an Indian Family.

Published in:

2015

By:

Ray, Anindita;
Paul, Suman;
Chattopadhyay, Esita;
Kundu, Susmita;
Roy, Bidyut

Publication type:

Report

In silico analysis of non-synonymous single nucleotide polymorphisms in human DAZL gene associated with male infertility.

Published in:

Systems Biology in Reproductive Medicine, 2017, v. 63, n. 4, p. 248, doi. 10.1080/19396368.2017.1305466

By:

Nailwal, Mili;
Chauhan, Jenabhai B.

Publication type:

Article

Trim9 Deletion Alters the Morphogenesis of Developing and Adult-Born Hippocampal Neurons and Impairs Spatial Learning and Memory.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 18, p. 4940, doi. 10.1523/JNEUROSCI.3876-15.2016

By:

Winkle, Cortney C.;
Olsen, Reid H. J.;
Hyojin Kim;
Moy, Sheryl S.;
Song, Juan;
Gupton, Stephanie L.

Publication type:

Article

Chromosome 13 deletion and hypodiploidy on conventional cytogenetics are robust prognostic factors in Korean multiple myeloma patients: web-based multicenter registry study.

Published in:

Annals of Hematology, 2014, v. 93, n. 8, p. 1353, doi. 10.1007/s00277-014-2057-5

By:

Oh, Sukjoong;
Koo, Dong;
Kwon, Min-Jung;
Kim, Kihyun;
Suh, Cheolwon;
Min, Chang-Ki;
Yoon, Sung-Soo;
Shin, Ho-Jin;
Jo, Deog-Yeon;
Kwak, Jae-Yong;
Kim, Jin;
Sohn, Sang;
Joo, Young-Don;
Eom, Hyeon-Seok;
Kim, Sung-Hyun;
Kim, Yang;
Kim, ChulSoo;
Mun, Yeung-Chul;
Kim, Hawk;
Lee, Dong

Publication type:

Article

Effects of pathogenic CNVs on physical traits in participants of the UK Biobank.

Published in:

BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-5292-7

By:

Owen, David;
Bracher-Smith, Mathew;
Kendall, Kimberley M.;
Rees, Elliott;
Einon, Mark;
Escott-Price, Valentina;
Owen, Michael J.;
O'Donovan, Michael C.;
Kirov, George

Publication type:

Article

The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit.

Published in:

Genetics, 2017, v. 205, n. 2, p. 787, doi. 10.1534/genetics.116.193821

By:

Pedersen, Casper-Emil T.;
Lohmueller, Kirk E.;
Grarup, Niels;
Bjerregaard, Peter;
Hansen, Torben;
Siegismund, Hans R.;
Moltke, Ida;
Albrechtsen, Anders

Publication type:

Article

A novel IGH@ gene rearrangement associated with CDKN2A/B deletion in young adult B-cell acute lymphoblastic leukemia.

Published in:

Oncology Letters, 2016, v. 11, n. 3, p. 2117, doi. 10.3892/ol.2016.4169

By:

OTHMAN, MONEEB A. K.;
GRYGALEWICZ, BEATA;
PIENKOWSKA-GRELA, BARBARA;
RYGIER, JOLANTA;
EJDUK, ANNA;
RINCIC, MARTINA;
MELO, JOANA B.;
CARREIRA, ISABEL M.;
MEYER, BRITTA;
LIEHR, THOMAS

Publication type:

Article

Genome-wide microhomologies enable precise template-free editing of biologically relevant deletion mutations.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-12829-8

By:

Grajcarek, Janin;
Monlong, Jean;
Nishinaka-Arai, Yoko;
Nakamura, Michiko;
Nagai, Miki;
Matsuo, Shiori;
Lougheed, David;
Sakurai, Hidetoshi;
Saito, Megumu K.;
Bourque, Guillaume;
Woltjen, Knut

Publication type:

Article

Germline genetic variants in men with prostate cancer and one or more additional cancers.

Published in:

2017

By:

Pilié, Patrick G.;
Johnson, Anna M.;
Hanson, Kristen L.;
Dayno, Megan E.;
Kapron, Ashley L.;
Stoffel, Elena M.;
Cooney, Kathleen A.

Publication type:

journal article

Genome Editing Techniques and Their Therapeutic Applications.

Published in:

Clinical Pharmacology & Therapeutics, 2017, v. 101, n. 1, p. 42, doi. 10.1002/cpt.542

By:

Calos, MP

Publication type:

Article

Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0106-5

By:

Hwang, Vicki J.;
Maar, Dianna;
Regan, John;
Angkustsiri, Kathleen;
Simon, Tony J.;
Tassone, Flora

Publication type:

Article

Transfusion-Dependent Thalassemia in Northern Sarawak: A Molecular Study to Identify Different Genotypes in the Multi-Ethnic Groups and the Importance of Genomic Sequencing in Unstudied Populations.

Published in:

Public Health Genomics, 2015, v. 18, n. 1, p. 60, doi. 10.1159/000368342

By:

Tan, Jin-ai M.a.;
Chin, Saw-Sian;
Ong, Gek-Bee;
Mohamed Unni, Mohamed N.;
Soosay, ashley E.R.;
Gudum, Henry R.;
Kho, Siew-Leng;
Chua, Kek-Heng;
Chen, Jang J.;
George, Elizabeth

Publication type:

Article

Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.

Published in:

PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186485

By:

Pardi, Elena;
Borsari, Simona;
Saponaro, Federica;
Bogazzi, Fausto;
Urbani, Claudio;
Mariotti, Stefano;
Pigliaru, Francesca;
Satta, Chiara;
Pani, Fabiana;
Materazzi, Gabriele;
Miccoli, Paolo;
Grantaliano, Lorena;
Marcocci, Claudio;
Cetani, Filomena

Publication type:

Article

Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.

Published in:

European Journal of Endocrinology, 2016, v. 174, n. 4, p. K1, doi. 10.1530/EJE-15-1216

By:

Obermannova, Barbora;
Sumnik, Zdenek;
Dusatkova, Petra;
Cinek, Ondrej;
Grant, Michael;
Lebl, Jan;
Hendy, Geoffrey N.

Publication type:

Article

Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.

Published in:

Cytogenetic & Genome Research, 2018, v. 154, n. 1, p. 20, doi. 10.1159/000487094

By:

Bahamat, Abeer A.;
Assidi, Mourad;
Lary, Sahira A.;
Almughamsi, Muna M.;
Peer Zada, Abdul A.;
Chaudhary, Adeel;
Abuzenadah, Adel;
Abu-Elmagd, Muhammad;
Al-Qahtani, Mohammed

Publication type:

Article

17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis.

Published in:

Cytogenetic & Genome Research, 2015, v. 144, n. 3, p. 178, doi. 10.1159/000369117

By:

Egloff, Matthieu;
Encha-Razavi, Ferechte;
Garel, Catherine;
Bonnière-Darcy, Maryse;
Millischer, anne-Elodie;
Lapierre, Jean-Michel;
Fontaine, Sophie;
de Blois, Marie-Christine;
Vekemans, Michel;
Turleau, Catherine;
Ville, Yves;
Malan, Valérie

Publication type:

Article

Clinical and Molecular Characterization of a Patient with 15q21.2q22.2 Deletion Syndrome.

Published in:

Cytogenetic & Genome Research, 2015, v. 144, n. 3, p. 183, doi. 10.1159/000370081

By:

Velázquez-Wong, ana C.;
Ruiz Esparza-Garrido, Ruth;
Velázquez-Flores, Miguel Á.;
Huicochea-Montiel, Juan C.;
Cárdenas-Conejo, alan;
Miguez-Muñoz, Cristian P.;
araujo-Solís, María a.;
Salamanca-Gómez, Fabio;
arenas-aranda, Diego J.

Publication type:

Article

Real-time quantitative polymerase chain reaction assay for detecting 1p and 19q codeletion in glioma.

Published in:

Biomedical & Biotechnology Research Journal, 2023, v. 7, n. 4, p. 563, doi. 10.4103/bbrj.bbrj_196_23

By:

Vo, Niem;
Truong, Diem;
Xinh, Phan;
Vu, Hoang

Publication type:

Article

Japanese amyotrophic lateral sclerosis patient with learning disabilities with a deletion mutation in the C-terminal of the FUS/ TLS gene.

Published in:

Neurology & Clinical Neuroscience, 2015, v. 3, n. 5, p. 192, doi. 10.1111/ncn3.180

By:

Onohara, Akiko;
Koh, Kishin;
Nagasaka, Takamura;
Shindo, Kazumasa;
Kato, Masaaki;
Aoki, Masashi;
Takiyama, Yoshihisa

Publication type:

Article

A Temporal Perspective on the Interplay of Demography and Selection on Deleterious Variation in Humans.

Published in:

G3: Genes | Genomes | Genetics, 2017, v. 7, n. 3, p. 1027, doi. 10.1534/g3.117.039651

By:

Koch, Evan;
Novembre, John

Publication type:

Article

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

Published in:

G3: Genes | Genomes | Genetics, 2015, v. 5, n. 11, p. 2453, doi. 10.1534/g3.115.021345

By:

Merico, Daniele;
Zarrei, Mehdi;
Costain, Gregory;
Ogura, Lucas;
Alipanahi, Babak;
Gazzellone, Matthew J.;
Butcher, Nancy J.;
Thiruvahindrapuram, Bhooma;
Nalpathamkalam, Thomas;
Chow, Eva W. C.;
Andrade, Danielle M.;
Frey, Brendan J.;
Marshall, Christian R.;
Scherer, Stephen W.;
Bassett, Anne S.

Publication type:

Article

Mapping cellular processes in the mesenchyme during palatal development in the absence of Tbx1 reveals complex proliferation changes and perturbed cell packing and polarity.

Published in:

Journal of Anatomy, 2016, v. 228, n. 3, p. 464, doi. 10.1111/joa.12425

By:

Brock, Lara J.;
Economou, Andrew D.;
Cobourne, Martyn T.;
Green, Jeremy B.A.

Publication type:

Article

Triradial and quadriradial chromosomes detected in a case of B-cell prolymphocytic leukaemia.

Published in:

British Journal of Haematology, 2017, v. 179, n. 5, p. 704, doi. 10.1111/bjh.14895

By:

Ittel, Antoine;
Gervais, Carine;
Galoisy, Anne Cécile;
M'Kacher, Radhia;
Mauvieux, Laurent;
Fornecker, Luc M.

Publication type:

Article

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

Published in:

British Journal of Haematology, 2015, v. 168, n. 6, p. 854, doi. 10.1111/bjh.13229

By:

Wang, RuNan;
Yoshida, Kenichi;
Toki, Tsutomu;
Sawada, Takafumi;
Uechi, Tamayo;
Okuno, Yusuke;
Sato‐Otsubo, Aiko;
Kudo, Kazuko;
Kamimaki, Isamu;
Kanezaki, Rika;
Shiraishi, Yuichi;
Chiba, Kenichi;
Tanaka, Hiroko;
Terui, Kiminori;
Sato, Tomohiko;
Iribe, Yuji;
Ohga, Shouichi;
Kuramitsu, Madoka;
Hamaguchi, Isao;
Ohara, Akira

Publication type:

Article

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2071, doi. 10.3390/ijms18102071

By:

Bonatti, Francesco;
Adorni, Alessia;
Matichecchia, Annalisa;
Mozzoni, Paola;
Uliana, Vera;
Pisani, Francesco;
Garavelli, Livia;
Graziano, Claudio;
Gnoli, Maria;
Carli, Diana;
Bigoni, Stefania;
Boschi, Elena;
Martorana, Davide;
Percesepe, Antonio

Publication type:

Article

The 15q11.2 BP1-BP2 Microdeletion Syndrome: A Review.

Published in:

International Journal of Molecular Sciences, 2015, v. 16, n. 2, p. 4068, doi. 10.3390/ijms16024068

By:

Cox, Devin M.;
Butler, Merlin G.

Publication type:

Article

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.

Published in:

BMC Psychiatry, 2018, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12888-018-1822-8

By:

Nickel, Kathrin;
Tebartz van Elst, Ludger;
Domschke, Katharina;
Gläser, Birgitta;
Stock, Friedrich;
Endres, Dominique;
Maier, Simon;
Riedel, Andreas

Publication type:

Article

Deletion and duplication at DYS448 and DYS626 loci: unexpected patterns within the AZFc region of the Y-chromosome.

Published in:

International Journal of Legal Medicine, 2015, v. 129, n. 3, p. 449, doi. 10.1007/s00414-015-1178-2

By:

Turrina, Stefania;
Caratti, Stefano;
Ferrian, Melissa;
Leo, Domenico

Publication type:

Article

Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development.

Published in:

Annals of Laboratory Medicine, 2018, v. 38, n. 1, p. 77, doi. 10.3343/alm.2018.38.1.77

By:

Soon Sung Kwon;
Jieun Kim;
Saeam Shin;
Seung-Tae Lee;
Kyung-A Lee;
Jong Rak Choi

Publication type:

Article

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

Published in:

Frontiers in Genetics, 2017, v. 8, p. 1, doi. 10.3389/fgene.2017.00047

By:

Bertini, Veronica;
Azzarà, Alessia;
Legitimo, Annalisa;
Milone, Roberta;
Battini, Roberta;
Consolini, Rita;
Valetto, Angelo

Publication type:

Article

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 307, doi. 10.1038/ejhg.2013.134

By:

Silva, Amanda G;
Krepischi, Ana CV;
Torrezan, Giovana T;
Capelli, Leonardo P;
Carraro, Dirce M;
D'Angelo, Carla S;
Koiffmann, Celia P;
Zatz, Mayana;
Naslavsky, Michel S;
Masotti, Cibele;
Otto, Paulo A;
Achatz, Maria IW;
Mills, Ryan E;
Lee, Charles;
Pearson, Peter L;
Rosenberg, Carla

Publication type:

Article

Chromosome 2 Microdeletion Syndrome in a Newborn with Amniotic Band Sequence.

Published in:

2018

By:

Mallett, Teresa;
McElroy, Michelle;
Swift, Kali;
Reuter, Suzanne

Publication type:

Case Study

A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 11, p. e144, doi. 10.1111/jdv.13457

By:

Lolas, I.B.;
Sommerlund, M.;
Okkels, H.;
Ramsing, M.;
Petersen, M.B.

Publication type:

Article

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.

Published in:

2015

By:

Mohamed, Sarar;
Hamad, Muddathir H;
Kondkar, Altaf A;
Abu-Amero, Khaled K

Publication type:

Case Study

Short duplication within the RHCE gene associated with an in cis deleted RHD causing a Rh<sub>null</sub> amorph phenotype in an immunized pregnant woman with anti- Rh29.

Published in:

Transfusion, 2015, v. 55, n. 6pt2, p. 1407, doi. 10.1111/trf.12937

By:

Silvy, Monique;
Beley, Sophie;
Peyrard, Thierry;
Ouchari, Mouna;
Abdelkefi, Saadia;
Jemni Yacoub, Saloua;
Chiaroni, Jacques;
Bailly, Pascal

Publication type:

Article

Genetic Anticipation and Autism.

Published in:

Indian Pediatrics, 2014, v. 51, n. 10, p. 841

By:

RAI, BIRENDRA;
SHARIF, FARHANA

Publication type:

Article

Identification and characterization of a novel 43-bp deletion mutation of the <italic>ATP7B</italic> gene in a Chinese patient with Wilson's disease: a case report.

Published in:

2018

By:

Liu, Gang;
Ma, Dingyuan;
Cheng, Jian;
Zhang, Jingjing;
Luo, Chunyu;
Sun, Yun;
Hu, Ping;
Wang, Yuguo;
Jiang, Tao;
Xu, Zhengfeng

Publication type:

Case Study

Loss of SRY-box2 ( SOX2) expression and its impact on survival of patients with oesophageal adenocarcinoma.

Published in:

British Journal of Surgery, 2017, v. 104, n. 10, p. 1327, doi. 10.1002/bjs.10553

By:

ten Kate, F. J. C.;
van Olphen, S. H.;
Bruno, M. J.;
Wijnhoven, B. P. L.;
van Lanschot, J. J. B.;
Looijenga, L. H. J.;
Fitzgerald, R. C.;
Biermann, K.

Publication type:

Article

Association between an HLA-G 14 bp insertion/deletion polymorphism and non-segmental vitiligo in the Korean population.

Published in:

Archives of Dermatological Research, 2014, v. 306, n. 6, p. 577, doi. 10.1007/s00403-014-1459-5

By:

Jeong, K.-H.;
Kim, S.-K.;
Kang, B.-K.;
Chung, J.-H.;
Shin, M.-K.;
Lee, M.-H.

Publication type:

Article

Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019, v. 20, n. 7/8, p. 568, doi. 10.1080/21678421.2019.1632347

By:

Hirsch-Reinshagen, Veronica;
Alfaify, Omar A.;
Hsiung, Ging-Yuek R.;
Pottier, Cyril;
Baker, Matt;
Perkerson III, Ralph B.;
Rademakers, Rosa;
Briemberg, Hanna;
Foti, Dean J.;
Mackenzie, Ian R.

Publication type:

Article

Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene - a case report.

Published in:

Haemophilia, 2013, v. 19, n. 5, p. e310, doi. 10.1111/hae.12190

By:

Rost, S.;
Aumann, V.;
Nanda, I.;
Oldenburg, J.;
Müller, C. R.

Publication type:

Article

Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.

Published in:

Neuropsychiatric Disease & Treatment, 2016, v. 12, p. 1135, doi. 10.2147/NDT.S102272

By:

Verhoeven, Willem M. A.;
Egger, Jos I. M.;
Knegt, Alida C.;
Zuydam, José;
Kleefstra, Tjitske

Publication type:

Article