PMC Articles for MedGen (Select 86319) - PMC

Links from MedGen

Items: 1 to 20 of 23

<< First< Prev

Page of 2

Select item 108002371.

Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X‐linked muscular dystrophy in a cat

G. Diane Shelton, Fabrizio Tucciarone, Ling T. Guo, Lyndon M. Coghill, Leslie A. Lyons

J Vet Intern Med. 2024 Jan-Feb; 38(1): 135–144. Published online 2024 Jan 5. doi: 10.1111/jvim.16971

PMCID:: PMC10800237

Article PDF–2.5M

Select item 105248162.

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family

Hamna Shahid, Nazish Shakoor, Anisa Bibi, Asma Saleem Qazi, Rida Fatima Saeed, Aqeela Nawaz, Sajid Malik, Sara Mumtaz

Yale J Biol Med. 2023 Sep; 96(3): 383–396. Published online 2023 Sep 29. doi: 10.59249/UTCP9818

PMCID:: PMC10524816

Article PDF–1.0M

Select item 97620773.

Pitfalls in the Diagnosis of Primary Hyperparathyroidism in a Sudanese Adolescent Boy; a case disguised as rickets

Sara MohammedAhmed Gafar, Ghassan Faisal Fadlalbari, Asmahan T. Abdalla, Sawsan Abdel Rahim Mohammed, Mohammed Khalid Alrasheed, Isam Ahmed Taha, Mohamed Ahmed Abdullah

BMC Endocr Disord. 2022; 22: 322. Published online 2022 Dec 19. doi: 10.1186/s12902-022-01241-x

PMCID:: PMC9762077

Article PDF–1.1M

Select item 97084484.

Clinical characterization of epileptic seizures in Pomeranians with idiopathic epilepsy or epilepsy of unknown cause

Yoshihiko Yu, Daisuke Hasegawa, Shinichi Kanazono, Miyoko Saito

J Vet Intern Med. 2022 Nov-Dec; 36(6): 2113–2122. Published online 2022 Nov 4. doi: 10.1111/jvim.16578

PMCID:: PMC9708448

Article PDF–1.4M

Select item 96924965.

Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case

Bruno Lamanna, Marina Vinciguerra, Miriam Dellino, Gabriele Cascella, Gerardo Cazzato, Enrica Macorano, Antonio Malvasi, Salvatore Scacco, Ettore Cicinelli, Vera Loizzi, Antonella Vimercati, Gennaro Cormio, Francesco Paduano, Eliano Cascardi, Marco Tatullo

Int J Mol Sci. 2022 Nov; 23(22): 14408. Published online 2022 Nov 19. doi: 10.3390/ijms232214408

PMCID:: PMC9692496

Article PDF–640K

Select item 94467696.

Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency

Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas, Mercedes Gil-Campos

Orphanet J Rare Dis. 2022; 17: 340. Published online 2022 Sep 5. doi: 10.1186/s13023-022-02468-6

PMCID:: PMC9446769

Article PDF–1.3M

Select item 92879487.

A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex

Jodi Y. So, Shivali Fulchand, Christine Y. Wong, Shufeng Li, Jaron Nazaroff, Emily S. Gorell, Mark P. de Souza, Dedee F. Murrell, Joyce M. Teng, Albert S. Chiou, Jean Y. Tang

Orphanet J Rare Dis. 2022; 17: 270. Published online 2022 Jul 15. doi: 10.1186/s13023-022-02433-3

PMCID:: PMC9287948

Article PDF–922K

Select item 91050278.

Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis

Yoshifumi Takahata, Hiromasa Hagino, Ayaka Kimura, Mitsuki Urushizaki, Shiori Yamamoto, Kanta Wakamori, Tomohiko Murakami, Kenji Hata, Riko Nishimura

Int J Mol Sci. 2022 May; 23(9): 4672. Published online 2022 Apr 23. doi: 10.3390/ijms23094672

PMCID:: PMC9105027

Article PDF–1.6M

Select item 84462089.

Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome

Yan‐Yan Xue, Xue‐Rong Huang, Hai‐Lin Dong, Zhi‐Ying Wu, Hong‐Fu Li

CNS Neurosci Ther. 2021 Oct; 27(10): 1251–1253. Published online 2021 Sep 7. doi: 10.1111/cns.13723

PMCID:: PMC8446208

Article PDF–516K

Select item 748248910.

Titinopathy, an atypical respiratory failure

Joana Morais, Ana Andrade Oliveira, Olga Pires, Inês Burmester, Maria João Regadas, Paulo Gouveia

BMJ Case Rep. 2020; 13(9): e235378. Published online 2020 Sep 9. doi: 10.1136/bcr-2020-235378

PMCID:: PMC7482489

Article PDF–384K

Select item 716099711.

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer, Alaa Hamed

Orphanet J Rare Dis. 2020; 15: 92. Published online 2020 Apr 15. doi: 10.1186/s13023-020-01354-3

PMCID:: PMC7160997

Article PDF–886K

Select item 615491112.

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Ali Hosseini Bereshneh, Masoud Garshasbi

J Med Case Rep. 2018; 12: 281. Published online 2018 Sep 25. doi: 10.1186/s13256-018-1788-7

PMCID:: PMC6154911

Article PDF–3.5M

Select item 608114413.

Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports

Yue Gao, Zhi-Min Wang, Xia-Lian Li

Medicine (Baltimore) 2018 Aug; 97(31): e11453. Published online 2018 Aug 3. doi: 10.1097/MD.0000000000011453

PMCID:: PMC6081144

Article PDF–573K

Select item 568165114.

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

L. L. Mariani, S. Rivaud-Péchoux, P. Charles, C. Ewenczyk, A. Meneret, B. B. Monga, M.-C. Fleury, E. Hainque, T. Maisonobe, B. Degos, A. Echaniz-Laguna, M. Renaud, T. Wirth, D. Grabli, A. Brice, M. Vidailhet, D. Stoppa-Lyonnet, C. Dubois-d’Enghien, I. Le Ber, M. Koenig, E. Roze, C. Tranchant, A. Durr, B. Gaymard, M. Anheim

Sci Rep. 2017; 7: 15284. Published online 2017 Nov 10. doi: 10.1038/s41598-017-15127-9

PMCID:: PMC5681651

Article PDF–1.5M

Select item 494013515.

Genotype and Phenotype of Transthyretin Cardiac Amyloidosis in the United States: The Transthyretin Amyloid Outcome Survey (THAOS)

Mathew S. Maurer, Mazen Hanna, Martha Grogan, Angela Dispenzieri, Ronald Witteles, Brian Drachman, Daniel P. Judge, Daniel J. Lenihan, Stephen S. Gottlieb, Sanjiv J. Shah, D. Eric Steidley, Hector Ventura, Srinivas Murali, Marc A. Silver, Daniel Jacoby, Savitri Fedson, Scott L. Hummel, Arnt V. Kristen, Thibaud Damy, Violaine Planté-Bordeneuve, Teresa Coelho, Rajiv Mundayat, Ole B Suhr, Márcia Waddington Cruz, Claudio Rapezzi

J Am Coll Cardiol. Author manuscript; available in PMC 2017 Jul 12.

Published in final edited form as: J Am Coll Cardiol. 2016 Jul 12; 68(2): 161–172. doi: 10.1016/j.jacc.2016.03.596

PMCID:: PMC4940135

Article PDF–820K

Select item 492643816.

Neuroprotective and Therapeutic Strategies against Parkinson’s Disease: Recent Perspectives

Sumit Sarkar, James Raymick, Syed Imam

Int J Mol Sci. 2016 Jun; 17(6): 904. Published online 2016 Jun 8. doi: 10.3390/ijms17060904

PMCID:: PMC4926438

Article PDF–334K

Select item 473845917.

Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Louise‐Laure Mariani, Pierre Lozeron, Marie Théaudin, Zoia Mincheva, Aissatou Signate, Beatrice Ducot, Vincent Algalarrondo, Christian Denier, Clovis Adam, Guillaume Nicolas, Didier Samuel, Michel S. Slama, Catherine Lacroix, Micheline Misrahi, David Adams, on behalf of the French Familial Amyloid Polyneuropathies Network (CORNAMYL) Study Group

Ann Neurol. 2015 Dec; 78(6): 901–916. Published online 2015 Oct 7. doi: 10.1002/ana.24519

PMCID:: PMC4738459

Article PDF–269K

Select item 416612818.

Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues

Mahesh Kamate, Shashikala Ramakrishna, Shweta Kambali, Anita Mahadevan

BMJ Case Rep. 2014; 2014: bcr2014204481. Published online 2014 Sep 12. doi: 10.1136/bcr-2014-204481

PMCID:: PMC4166128

Article PDF–822K

Select item 415714119.

A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

Gen Tamiya, Satoshi Makino, Makiko Hayashi, Akiko Abe, Chikahiko Numakura, Masao Ueki, Atsushi Tanaka, Chizuru Ito, Kiyotaka Toshimori, Nobuhiro Ogawa, Tomoya Terashima, Hiroshi Maegawa, Daijiro Yanagisawa, Ikuo Tooyama, Masayoshi Tada, Osamu Onodera, Kiyoshi Hayasaka

Am J Hum Genet. 2014 Sep 4; 95(3): 294–300. doi: 10.1016/j.ajhg.2014.07.013

PMCID:: PMC4157141

Article PDF–1.0M

Select item 399492720.

Barbara W van Paassen, Anneke J van der Kooi, Karin Y van Spaendonck-Zwarts, Camiel Verhamme, Frank Baas, Marianne de Visser

Orphanet J Rare Dis. 2014; 9: 38. Published online 2014 Mar 19. doi: 10.1186/1750-1172-9-38

PMCID:: PMC3994927

Article PDF–865K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 23

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity