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Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist
Urbaneja, Elena, Bonet, Nuria, Solis-Moruno, Manuel, Mensa-Vilaro, Anna, de Landazuri, Iñaki Ortiz, Tormo, Marc, Lara, Rocio, Plaza, Susana, Fabregat, Virginia, Yagüe, Jordi, Casals, Ferran, Arostegui, Juan I.
Published in Frontiers in immunology (2024)
Published in Frontiers in immunology (2024)
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Preliminary characterization of a novel form of progressive retinal atrophy in the German Spitz dog associated with a frameshift mutation in GUCY2D
Bortolini, Mariza, Winkler, Paige A., Moreno, Juan Carlos Duque, Sato, Mario Teruo, Guareschi, Bianca Luiza Valduga, Petersen‐Jones, Simon M., Montiani‐Ferreira, Fabiano
Published in Veterinary ophthalmology (01.11.2023)
Published in Veterinary ophthalmology (01.11.2023)
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Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation
Leoni, Chiara, Gordon, Christopher T., Marca, Giacomo Della, Giorgio, Valentina, Onesimo, Roberta, Perrino, Francesca, Cianfoni, Alessandro, Cerchiari, Antonella, Amiel, Jeanne, Zampino, Giuseppe
Published in American journal of medical genetics. Part A (01.06.2016)
Published in American journal of medical genetics. Part A (01.06.2016)
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A Single Nucleotide Polymorphism in GAS5 lncRNA is Associated with Risk of Bladder Cancer in Iranian Population
Rakhshan, Azadeh, Esmaeili, Mohammad Hossein, Kahaei, Mir Salar, Taheri, Mohammad, Omrani, Mir Davood, Noroozi, Rezvan, Ghafouri-Fard, Soudeh
Published in Pathology oncology research (01.04.2020)
Published in Pathology oncology research (01.04.2020)
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Is the "Habsburg jaw" related to inbreeding?
Vilas, Román, Ceballos, Francisco C., Al-Soufi, Laila, González-García, Raúl, Moreno, Carlos, Moreno, Manuel, Villanueva, Laura, Ruiz, Luis, Mateos, Jesús, González, David, Ruiz, Jennifer, Cinza, Aitor, Monje, Florencio, Álvarez, Gonzalo
Published in Annals of human biology (17.11.2019)
Published in Annals of human biology (17.11.2019)
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Contribution of long noncoding RNA HOTAIR variants to preeclampsia susceptibility in Iranian women
Esmkhani, Sahra, Sadeghi, Hossein, Ghasemian, Majid, Pirjani, Reihaneh, Amin-Beidokhti, Mona, Gholami, Milad, Yassaee, Fakhrolmolouk, Mirfakhraie, Reza
Published in Hypertension in pregnancy (02.01.2021)
Published in Hypertension in pregnancy (02.01.2021)
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Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies
Iseri, Sibel Ugur, Osborne, Robert J, Farrall, Martin, Wyatt, Alexander William, Mirza, Ghazala, Nürnberg, Gudrun, Kluck, Christian, Herbert, Helen, Martin, Angela, Hussain, Muhammad Sajid, Collin, J. Richard O, Lathrop, Mark, Nürnberg, Peter, Ragoussis, Jiannis, Ragge, Nicola K
Published in Human mutation (01.10.2009)
Published in Human mutation (01.10.2009)
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Obesity risk prediction among women of Upper Egypt: The impact of serum vaspin and vaspin rs2236242 gene polymorphism
Abdel Ghany, Soad M., Sayed, Ayat A., El-Deek, Sahar E.M., ElBadre, Hala M., Dahpy, Marwa A., Saleh, Medhat A., Sharaf El-Deen, Hanan, Mustafa, Mohamed H.
Published in Gene (30.08.2017)
Published in Gene (30.08.2017)
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Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome
Yariz, Kemal O., Walsh, Tom, Uzak, Asli, Spiliopoulos, Michail, Duman, Duygu, Onalan, Gogsen, King, Mary-Claire, Tekin, Mustafa
Published in Fertility and sterility (01.08.2011)
Published in Fertility and sterility (01.08.2011)
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Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism
Zamproni, Ilaria, Grasberger, Helmut, Cortinovis, Francesca, Vigone, Maria Cristina, Chiumello, Giuseppe, Mora, Stefano, Onigata, Kazumichi, Fugazzola, Laura, Refetoff, Samuel, Persani, Luca, Weber, Giovanna
Published in The journal of clinical endocrinology and metabolism (01.02.2008)
Published in The journal of clinical endocrinology and metabolism (01.02.2008)
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A meta-analysis of the association of ApaI, BsmI, FokI, and TaqI polymorphisms in the vitamin D receptor gene with the risk of polycystic ovary syndrome in the Eastern Mediterranean Regional Office population
Shahmoradi, Arvin, Aghaei, Abbas, Ghaderi, Kimya, Jafar Rezaei, Mohammad, Azarnezhad, Asaad
Published in International journal of reproductive biomedicine (Yazd, Iran) (01.06.2022)
Published in International journal of reproductive biomedicine (Yazd, Iran) (01.06.2022)
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Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria
Gouya, Laurent, Martin-Schmitt, Caroline, Robreau, Anne-Marie, Austerlitz, Frédéric, Da Silva, Vasco, Brun, Patrick, Simonin, Sylvie, Lyoumi, Saïd, Grandchamp, Bernard, Beaumont, Carole, Puy, Hervé, Deybach, Jean-Charles
Published in American journal of human genetics (01.01.2006)
Published in American journal of human genetics (01.01.2006)
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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Megahed, Hisham, Nicouleau, Michaël, Barcia, Giulia, Medina-Cano, Daniel, Siquier-Pernet, Karine, Bole-Feysot, Christine, Parisot, Mélanie, Masson, Cécile, Nitschké, Patrick, Rio, Marlène, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Colleaux, Laurence, Cantagrel, Vincent
Published in Orphanet journal of rare diseases (04.05.2016)
Published in Orphanet journal of rare diseases (04.05.2016)
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An ancient founder mutation in PROKR2 impairs human reproduction
Avbelj Stefanija, Magdalena, Jeanpierre, Marc, Sykiotis, Gerasimos P., Young, Jacques, Quinton, Richard, Abreu, Ana Paula, Plummer, Lacey, Au, Margaret G., Balasubramanian, Ravikumar, Dwyer, Andrew A., Florez, Jose C., Cheetham, Timothy, Pearce, Simon H., Purushothaman, Radhika, Schinzel, Albert, Pugeat, Michel, Jacobson-Dickman, Elka E., Ten, Svetlana, Latronico, Ana Claudia, Gusella, James F., Dode, Catherine, Crowley, William F., Pitteloud, Nelly
Published in Human molecular genetics (01.10.2012)
Published in Human molecular genetics (01.10.2012)
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Deficiency and absence of endogenous isoprene in adults, disqualified its putative origin
Sukul, Pritam, Richter, Anna, Schubert, Jochen K., Miekisch, Wolfram
Published in Heliyon (01.01.2021)
Published in Heliyon (01.01.2021)
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Permanent neonatal diabetes caused by glucokinase deficiency: Inborn error of the glucose-insulin signaling pathway
NJØLSTAD, Pal R, SAGEN, Jørn V, SØVIK, Oddmund, MATSCHINSKY, Franz M, BJØRKHAUG, Lise, ODILI, Stella, SHEHADEH, Naim, BAKRY, Doua, SARICI, S. Umit, ALPAY, Faruk, MOLNES, Janne, MOLVEN, Anders
Published in Diabetes (New York, N.Y.) (01.11.2003)
Published in Diabetes (New York, N.Y.) (01.11.2003)
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Polymorphisms of the Tissue Inhibitor of Metalloproteinase 3 Gene Are Associated with Resistance to High-Altitude Pulmonary Edema (HAPE) in a Japanese Population: A Case Control Study Using Polymorphic Microsatellite Markers
Kobayashi, Nobumitsu, Hanaoka, Masayuki, Droma, Yunden, Ito, Michiko, Katsuyama, Yoshihiko, Kubo, Keishi, Ota, Masao
Published in PloS one (22.08.2013)
Published in PloS one (22.08.2013)
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Molecular Determination of Vascular Endothelial Growth Factor, miRNA-423 Gene Abnormalities by Utilizing ARMS-PCR and Their Association with Fetal Hemoglobin Expression in the Patients with Sickle Cell Disease
Hamadi, Abdullah, Mir, Rashid, Mahzari, Ali, Hakami, Abdulrahim, Almotairi, Reema, Dobie, Gasim, Hamdi, Fawaz, Nahari, Mohammed, Alhefzi, Razan, Alasseiri, Mohammed, Hakami, Nora, Al Sadoun, Hadeel, Al-Amer, Osama, Barnawi, Jameel, Madkhali, Hassan
Published in Current Issues in Molecular Biology (01.06.2022)
Published in Current Issues in Molecular Biology (01.06.2022)
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Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention
Kim, So Young, Kim, Ah Reum, Kim, Nayoung K.D., Lee, Chung, Han, Jin Hee, Kim, Min Young, Jeon, Eun-Hee, Park, Woong-Yang, Mittal, Rahul, Yan, Denise, Liu, Xue Zhong, Choi, Byung Yoon
Published in The journal of gene medicine (01.11.2016)
Published in The journal of gene medicine (01.11.2016)
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CD36 gene polymorphism rs1761667 (G > A) is associated with hypertension and coronary artery disease in an Iranian population
Momeni-Moghaddam, Mohammad Amin, Asadikaram, Gholamreza, Akbari, Hamed, Abolhassani, Moslem, Masoumi, Mohammad, Nadimy, Zahra, Khaksari, Mohammad
Published in BMC cardiovascular disorders (11.06.2019)
Published in BMC cardiovascular disorders (11.06.2019)
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