PMC Articles for MedGen (Select 863301) - PMC

Select item 106900111.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino

Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257

PMCID:: PMC10690011

Abstract Article PDF–1.1M

Select item 12871962.

A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28

G. Vazza, M. Zortea, F. Boaretto, G. F. Micaglio, V. Sartori, M. L. Mostacciuolo

Am J Hum Genet. 2000 Aug; 67(2): 504–509. Published online 2000 Jun 30. doi: 10.1086/303017

PMCID:: PMC1287196

Abstract Article PDF–167K

Select item 16476023.

Cerebro-costo-mandibular Syndrome: A New Familial Developmental Disorder

B. McNicholl, B. Egan-Mitchell, J. P. Murray, J. F. Doyle, J. D. Kennedy, L. Crome

Arch Dis Child. 1970 Jun; 45(241): 421–424. doi: 10.1136/adc.45.241.421

PMCID:: PMC1647602

Summary Page Browse PDF–1.3M

Select item 17352404.

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

A Slavotinek, C Tifft

J Med Genet. 2002 Sep; 39(9): 623–633. doi: 10.1136/jmg.39.9.623

PMCID:: PMC1735240

Summary PDF–167K

Select item 26587505.

The molecular landscape of ASPM mutations in primary microcephaly

A K Nicholas, E A Swanson, J J Cox, G Karbani, S Malik, K Springell, D Hampshire, M Ahmed, J Bond, D Di Benedetto, M Fichera, C Romano, W B Dobyns, C G Woods

J Med Genet. 2009 Apr; 46(4): 249–253. Published online 2008 Nov 21. doi: 10.1136/jmg.2008.062380

PMCID:: PMC2658750

Abstract Article PDF–308K

Select item 27701346.

Nephronophthisis

Rémi Salomon, Sophie Saunier, Patrick Niaudet

Pediatr Nephrol. 2009; 24(12): 2333–2344. Published online 2008 Jul 8. doi: 10.1007/s00467-008-0840-z

PMCID:: PMC2770134

Abstract Article PDF–351K

Select item 30174667.

Identification of 11 Novel Mutations in 8 BBS Genes by High-Resolution Homozygosity Mapping

Heather M. Harville, Susanne Held, Anna Diaz-Font, Erica E. Davis, Bill H. Diplas, Richard A. Lewis, Zvi Borochowitz, Weibin Zhou, Moumita Chaki, Jim MacDonald, Hulya Kayserili, Philip L. Beales, Nicholas Katsanis, Edgar Otto, Friedhelm Hildebrandt

J Med Genet. Author manuscript; available in PMC 2011 Jan 7.

Published in final edited form as: J Med Genet. 2010 Apr; 47(4): 262–267. Published online 2009 Sep 24. doi: 10.1136/jmg.2009.071365

PMCID:: PMC3017466

Abstract Article PDF–383K

Select item 31351028.

A Novel GPR56 Mutation Causes Bilateral Frontoparietal Polymicrogyria

Rong Luo, Hye Min Yang, Zhaohui Jin, Dicky JJ Halley, Bernard S. Chang, Lesley MacPherson, Louise Brueton, Xianhua Piao

Pediatr Neurol. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Pediatr Neurol. 2011 Jul; 45(1): 49–53. doi: 10.1016/j.pediatrneurol.2011.02.004

PMCID:: PMC3135102

Abstract Article PDF–1.2M

Select item 31981539.

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

R Abou Jamra, Sigrun Wohlfart, Markus Zweier, Steffen Uebe, Lutz Priebe, Arif Ekici, Susanne Giesebrecht, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Markus M Nöthen, Johannes Schumacher, André Reis

Eur J Hum Genet. 2011 Nov; 19(11): 1161–1166. Published online 2011 Jun 1. doi: 10.1038/ejhg.2011.98

PMCID:: PMC3198153

Abstract Article PDF–414K

Select item 442495510.

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Iltaf Ahmed, Rebecca Buchert, Mi Zhou, Xinfu Jiao, Kirti Mittal, Taimoor I. Sheikh, Ute Scheller, Nasim Vasli, Muhammad Arshad Rafiq, M. Qasim Brohi, Anna Mikhailov, Muhammad Ayaz, Attya Bhatti, Heinrich Sticht, Tanveer Nasr, Melissa T. Carter, Steffen Uebe, André Reis, Muhammad Ayub, Peter John, Megerditch Kiledjian, John B. Vincent, Rami Abou Jamra

Hum Mol Genet. 2015 Jun 1; 24(11): 3172–3180. Published online 2015 Feb 20. doi: 10.1093/hmg/ddv069

PMCID:: PMC4424955

Abstract Article PDF–533K

Select item 532814811.

Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

Elizabeth Forsythe, Kathryn Sparks, Sunayna Best, Sarah Borrows, Bethan Hoskins, Ataf Sabir, Timothy Barrett, Denise Williams, Shehla Mohammed, David Goldsmith, David V. Milford, Detlef Bockenhauer, Lukas Foggensteiner, Philip L. Beales

J Am Soc Nephrol. 2017 Mar; 28(3): 963–970. Published online 2016 Sep 22. doi: 10.1681/ASN.2015091029

PMCID:: PMC5328148

Abstract Article

Select item 689222112.

Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Carlo Fusco

Ital J Pediatr. 2019; 45: 155. Published online 2019 Dec 3. doi: 10.1186/s13052-019-0752-5

PMCID:: PMC6892221

Abstract Article PDF–1.5M

Select item 821568213.

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Salma Ben-Salem, Sarah M Robbins, Nara LM Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali

J Med Genet. Author manuscript; available in PMC 2021 Jun 21.

Published in final edited form as: J Med Genet. 2018 Feb; 55(2): 122–130. Published online 2017 Nov 9. doi: 10.1136/jmedgenet-2017-104827

PMCID:: PMC8215682

Abstract Article PDF–1.5M

Select item 884216314.

Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families

Mahdiyeh Moudi, Mohammad Yahya Vahidi Mehrjardi, Hossein Hozhabri, Zahra Metanat, Seyed Mehdi Kalantar, Mohsen Taheri, Nasrin Ghasemi, Mohammadreza Dehghani

J Clin Lab Anal. 2022 Feb; 36(2): e24241. Published online 2022 Jan 12. doi: 10.1002/jcla.24241

PMCID:: PMC8842163

Abstract Article PDF–1.0M

Select item 904675715.

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability

Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M Kaindl

J Med Genet. 2022 May; 59(5): 453–461. Published online 2021 May 31. doi: 10.1136/jmedgenet-2020-107518

PMCID:: PMC9046757

Abstract Article PDF–4.7M

Select item 913154616.

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report

Shingo Koyama, Yuma Okabe, Yuya Suzuki, Ryosuke Igari, Hiroyasu Sato, Chifumi Iseki, Kazuyo Tanji, Kyoko Suzuki, Yasuyuki Ohta

BMC Neurol. 2022; 22: 193. Published online 2022 May 25. doi: 10.1186/s12883-022-02711-4

PMCID:: PMC9131546

Abstract Article PDF–1.3M

Select item 1039341717.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian

Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039

PMCID:: PMC10393417

Abstract Article PDF–34M

Select item 1041193618.

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo M Santorelli, Mustafa Sahin, Craig Blackstone, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari

Brain. 2023 May; 146(5): 2003–2015. Published online 2022 Oct 31. doi: 10.1093/brain/awac391

PMCID:: PMC10411936

Abstract Article PDF–926K

Select item 1069068419.

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu

Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811

PMCID:: PMC10690684

Abstract Article PDF–4.6M

Select item 2446620.

Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding α-N-acetylglucosaminidase

Hong Hua Li, Wei-Hong Yu, Nora Rozengurt, Hui-Zhi Zhao, Karen M. Lyons, Stephan Anagnostaras, Michael S. Fanselow, Kunihiko Suzuki, Marie T. Vanier, Elizabeth F. Neufeld

Proc Natl Acad Sci U S A. 1999 Dec 7; 96(25): 14505–14510. doi: 10.1073/pnas.96.25.14505

PMCID:: PMC24466

Abstract Article PDF–464K

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