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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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1539-P: Genetic Variants and Evidence of Digenic Inheritance on the Clinical Presentation of Maturity Onset Diabetes of the Young in Taiwan
SHEEN, YI-JING, ROTTER, JEROME I., CHEN, YII-DER IDA, CHEN, PEI-HUA, TSAI, HUI-JU, SHEU, WAYNE H-H
Published in Diabetes (New York, N.Y.) (20.06.2025)
Published in Diabetes (New York, N.Y.) (20.06.2025)
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Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss
Ołdak, Monika, Lechowicz, Urszula, Pollak, Agnieszka, Oziębło, Dominika, Skarżyński, Henryk
Published in Journal of translational medicine (14.08.2019)
Published in Journal of translational medicine (14.08.2019)
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Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness
Nozu, K, Inagaki, T, Fu, X J, Nozu, Y, Kaito, H, Kanda, K, Sekine, T, Igarashi, T, Nakanishi, K, Yoshikawa, N, Iijima, K, Matsuo, M
Published in Journal of medical genetics (01.03.2008)
Published in Journal of medical genetics (01.03.2008)
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Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: Assessment of GJB4, GJA1, and GJC3
Kooshavar, Daniz, Tabatabaiefar, Mohammad Amin, Farrokhi, Effat, Abolhasani, Marziye, Noori-Daloii, Mohammad-Reza, Hashemzadeh-Chaleshtori, Morteza
Published in International journal of pediatric otorhinolaryngology (01.02.2013)
Published in International journal of pediatric otorhinolaryngology (01.02.2013)
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Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD
Cascella, Raffaella, Strafella, Claudia, Caputo, Valerio, Galota, Rosaria Maria, Errichiello, Valeria, Scutifero, Marianna, Petillo, Roberta, Marella, Gian Luca, Arcangeli, Mauro, Colantoni, Luca, Zampatti, Stefania, Ricci, Enzo, Deidda, Giancarlo, Politano, Luisa, Giardina, Emiliano
Published in Frontiers in neurology (28.11.2018)
Published in Frontiers in neurology (28.11.2018)
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Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations
Naseri, Marzieh, Akbarzadehlaleh, Masoud, Masoudi, Marjan, Ahangari, Najmeh, Poursadegh Zonouzi, Ali Akbar, Poursadegh Zonouzi, Ahmad, Shams, Leila, Nejatizadeh, Azim
Published in Iranian journal of public health (01.01.2018)
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Published in Iranian journal of public health (01.01.2018)
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High frequency of mutations in the HNF-1α gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance
TONOOKA, N, TOMURA, H, TAKAHASHI, Y, ONIGATA, K, KIKUCHI, N, HORIKAWA, Y, MORI, M, TAKEDA, J
Published in Diabetologia (01.12.2002)
Published in Diabetologia (01.12.2002)
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Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations
Marzieh NASERI, Masoud AKBARZADEHLALEH, Marjan MASOUDI, Najmeh AHANGARI, Ali Akbar POURSADEGH ZONOUZI, Ahmad POURSADEGH ZONOUZI, Leila SHAMS, Azim NEJATIZADEH
Published in Iranian journal of public health (01.12.2017)
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Published in Iranian journal of public health (01.12.2017)
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Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
Kadhi, Ayat, Hamie, Lamiaa, Eid, Edward, Nemer, Georges, Kurban, Mazen
Published in Dermatology practical & conceptual (30.01.2025)
Published in Dermatology practical & conceptual (30.01.2025)
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Genetics and Genomics of Pulmonary Arterial Hypertension
Year of Publication 2022
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Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions
Roessler, Erich, Vélez, Jorge I., Zhou, Nan, Muenke, Maximilian
Published in Molecular genetics and metabolism (01.04.2012)
Published in Molecular genetics and metabolism (01.04.2012)
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Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
Fjaer, Roar, Brodtkorb, Eylert, Øye, Ane-Marte, Sheng, Ying, Vigeland, Magnus Dehli, Kvistad, Kjell Arne, Backe, Paul Hoff, Selmer, Kaja Kristine
Published in European journal of medical genetics (01.11.2015)
Published in European journal of medical genetics (01.11.2015)
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Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa
Sun, Yan, Li, Wei, Li, Jian‐kang, Wang, Zhuo‐shi, Bai, Jin‐yue, Xu, Ling, Xing, Bo, Yang, Wen, Wang, Zi‐wei, Wang, Lu‐sheng, He, Wei, Chen, Fang
Published in Molecular genetics & genomic medicine (01.04.2020)
Published in Molecular genetics & genomic medicine (01.04.2020)
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High frequency of mutations in the HNF-1[alpha] gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance
Tonooka, N, Tomura, H, Takahashi, Y, Onigata, K, Kikuchi, N, Horikawa, Y, Mori, M, Takeda, J
Published in Diabetologia (01.12.2002)
Published in Diabetologia (01.12.2002)
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High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance
Tonooka, N, Tomura, H, Takahashi, Y, Onigata, K, Kikuchi, N, Horikawa, Y, Mori, M, Takeda, J
Published in Diabetologia (01.12.2002)
Published in Diabetologia (01.12.2002)
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Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
Le Quesne Stabej, Polona, Saihan, Zubin, Rangesh, Nell, Steele-Stallard, Heather B, Ambrose, John, Coffey, Alison, Emmerson, Jenny, Haralambous, Elene, Hughes, Yasmin, Steel, Karen P, Luxon, Linda M, Webster, Andrew R, Bitner-Glindzicz, Maria
Published in Journal of medical genetics (01.01.2012)
Published in Journal of medical genetics (01.01.2012)
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De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
Smits, Jeroen J., Oostrik, Jaap, Beynon, Andy J., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, Koole, Wouter, Feenstra, Ilse, Admiraal, Ronald J. C., Lanting, Cornelis P., Schraders, Margit, Yntema, Helger G., Pennings, Ronald J. E., Kremer, Hannie
Published in Human genetics (01.01.2019)
Published in Human genetics (01.01.2019)
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Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing
Mouden, C., Dubourg, C., Carré, W., Rose, S., Quelin, C., Akloul, L., Hamdi-Rozé, H., Viot, G., Salhi, H., Darnault, P., Odent, S., Dupé, V., David, V.
Published in Clinical genetics (01.06.2016)
Published in Clinical genetics (01.06.2016)
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