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Increased availability of family donors for hematopoietic stem cell transplantation in a population with increased incidence of consanguinity
Balcı, Yasemin I., Tavil, Betul, Tan, Cagman S., Ozgur, Tuba T., Bulum, Burcu, Cetin, Mualla, Balcı, Mustafa, Yalcın, Songul, Tezcan, Ilhan, Uckan, Duygu
Published in Clinical transplantation (01.05.2011)
Published in Clinical transplantation (01.05.2011)
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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Is there any association between consanguinity and hearing loss
Bener, Abdulbari, EIHakeem, Amr A.M., Abdulhadi, Khaled
Published in International journal of pediatric otorhinolaryngology (01.03.2005)
Published in International journal of pediatric otorhinolaryngology (01.03.2005)
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Sensitive and Specific Real-Time Polymerase Chain Reaction Assays to Accurately Determine Copy Number Variations (CNVs) of Human Complement C4A, C4B, C4-Long, C4-Short, and RCCX Modules: Elucidation of C4 CNVs in 50 Consanguineous Subjects with Defined HLA Genotypes
Wu, Yee Ling, Savelli, Stephanie L, Yang, Yan, Zhou, Bi, Rovin, Brad H, Birmingham, Daniel J, Nagaraja, Haikady N, Hebert, Lee A, Yu, C. Yung
Published in Journal of Immunology (01.09.2007)
Published in Journal of Immunology (01.09.2007)
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Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan
Saeed, Sadia, Janjua, Qasim M., Haseeb, Attiya, Khanam, Roohia, Durand, Emmanuelle, Vaillant, Emmanuel, Ning, Lijiao, Badreddine, Alaa, Berberian, Lionel, Boissel, Mathilde, Amanzougarene, Souhila, Canouil, Mickaël, Derhourhi, Mehdi, Bonnefond, Amélie, Arslan, Muhammad, Froguel, Philippe
Published in Diabetes (New York, N.Y.) (01.04.2022)
Published in Diabetes (New York, N.Y.) (01.04.2022)
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Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene
Nishimura, Darryl Y., Swiderski, Ruth E., Searby, Charles C., Berg, Erik M., Ferguson, Amanda L., Hennekam, Raoul, Merin, Saul, Weleber, Richard G., Biesecker, Leslie G., Stone, Edwin M., Sheffield, Val C.
Published in American journal of human genetics (01.12.2005)
Published in American journal of human genetics (01.12.2005)
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Transcriptional regulator PRDM12 is essential for human pain perception
Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
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A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations
Taghavi, Shaghayegh, Chaouni, Rita, Tafakhori, Abbas, Azcona, Luis J., Firouzabadi, Saghar Ghasemi, Omrani, Mir Davood, Jamshidi, Javad, Emamalizadeh, Babak, Shahidi, Gholam Ali, Ahmadi, Mona, Habibi, Seyed Amir Hassan, Ahmadifard, Azadeh, Fazeli, Atena, Motallebi, Marzieh, Petramfar, Peyman, Askarpour, Saeed, Askarpour, Shiva, Shahmohammadibeni, Hossein Ali, Shahmohammadibeni, Neda, Eftekhari, Hajar, Shafiei Zarneh, Amir Ehtesham, Mohammadihosseinabad, Saeed, Khorrami, Mehdi, Najmi, Safa, Chitsaz, Ahmad, Shokraeian, Parasto, Ehsanbakhsh, Hossein, Rezaeidian, Jalal, Ebrahimi Rad, Reza, Madadi, Faranak, Andarva, Monavvar, Alehabib, Elham, Atakhorrami, Minoo, Mortazavi, Seyed Erfan, Azimzadeh, Zahra, Bayat, Mahdis, Besharati, Amir Mohammad, Harati-Ghavi, Mohammad Ali, Omidvari, Samareh, Dehghani-Tafti, Zahra, Mohammadi, Faraz, Mohammad Hossein Pour, Banafsheh, Noorollahi Moghaddam, Hamid, Esmaili Shandiz, Ehsan, Habibi, Arman, Taherian-Esfahani, Zahra, Darvish, Hossein, Paisán-Ruiz, Coro
Published in Molecular neurobiology (01.04.2018)
Published in Molecular neurobiology (01.04.2018)
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Identification of Novel USH2A Mutations in a Consanguineous Chinese Family With Usher Syndrome
Wang, Haolin, Wei, Bo, Guo, Jiaxin, Wu, Xiawei, Zou, Tongdan, Wang, Ting, Zhang, Tiantian, Gong, Bo, Hao, Jilong, Zhang, Houbin, Wang, Le
Published in Human mutation (01.01.2025)
Published in Human mutation (01.01.2025)
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Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort
Ben-Mahmoud, Afif, Gupta, Vijay, Abdelaleem, Alice, Thompson, Richard, Aden, Abdi, Mbarek, Hamdi, Saad, Chadi, Tolefat, Mohamed, Alshaban, Fouad, Stanton, Lawrence W., Kim, Hyung-Goo
Published in International journal of molecular sciences (01.11.2024)
Published in International journal of molecular sciences (01.11.2024)
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Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation
Al-Agha, Abdulmoein Eid, Ahmed, Ihab Abdulhamed, Nuebel, Esther, Moriwaki, Mika, Moore, Barry, Peacock, Katherine A, Mosbruger, Tim, Neklason, Deborah W, Jorde, Lynn B, Yandell, Mark, Welt, Corrine K
Published in The journal of clinical endocrinology and metabolism (01.02.2018)
Published in The journal of clinical endocrinology and metabolism (01.02.2018)
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Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency
de Vries, Liat, Behar, Doron M., Smirin-Yosef, Pola, Lagovsky, Irina, Tzur, Shay, Basel-Vanagaite, Lina
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
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Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage
Belkadi, Aziz, Pedergnana, Vincent, Cobat, Aurélie, Itan, Yuval, Vincent, Quentin B., Abhyankar, Avinash, Shang, Lei, El Baghdadi, Jamila, Bousfiha, Aziz, Alcais, Alexandre, Boisson, Bertrand, Casanova, Jean-Laurent, Abel, Laurent
Published in Proceedings of the National Academy of Sciences - PNAS (14.06.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (14.06.2016)
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