PMC Articles for MedGen (Select 349137) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 175

<< First< Prev

Page of 9

Select item 63523481.

Prevalence and determinants of unmet need for family planning among married women in Ghana-a multinomial logistic regression analysis of the GDHS, 2014

Joseph K. Wulifan, Jacob Mazalale, Christabel Kambala, William Angko, Job Asante, Stephen Kpinpuo, Albino Kalolo

Contracept Reprod Med. 2019; 4: 2. Published online 2019 Jan 30. doi: 10.1186/s40834-018-0083-8

PMCID:: PMC6352348

Abstract Article PDF–645K

Select item 28124612.

Bypassing Isophthalate Inhibition by Modulating Glutamate Dehydrogenase (GDH): Purification and Kinetic Characterization of NADP-GDHs from Isophthalate-Degrading Pseudomonas aeruginosa Strain PP4 and Acinetobacter lwoffii Strain ISP4

C. Vamsee-Krishna, Prashant S. Phale

J Bacteriol. 2010 Feb; 192(3): 801–806. Published online 2009 Nov 20. doi: 10.1128/JB.01365-09

PMCID:: PMC2812461

Abstract Article PDF–220K

Select item 60405153.

Rare case of Gordon Holmes syndrome

Rajesh Verma, Mannan Mehta, Chetan Shettigar, Shinu Singla

BMJ Case Rep. 2018; 2018: bcr2018225638. Published online 2018 Jun 28. doi: 10.1136/bcr-2018-225638

PMCID:: PMC6040515

Abstract Article PDF–262K

Select item 92368134.

Prevalence and Associated Factors of Hypertension among Women in Southern Ghana: Evidence from 2014 GDHS

Cyprian Issahaku Dorgbetor, Kwamena Sekyi Dickson, Edward Kwabena Ameyaw, Kenneth Setorwu Adde

Int J Hypertens. 2022; 2022: 9700160. Published online 2022 Jun 20. doi: 10.1155/2022/9700160

PMCID:: PMC9236813

Abstract Article PDF–642K

Select item 62752025.

Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge

Paula Salgado, Rui Carvalho, Ana Filipa Brandão, Paula Jorge, Cristina Ramos, Daniel Dias, Isabel Alonso, Marina Magalhães

eNeurologicalSci. 2019 Mar; 14: 9–12. Published online 2018 Nov 22. doi: 10.1016/j.ensci.2018.11.022

PMCID:: PMC6275202

Abstract Article PDF–905K

Select item 53076436.

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik

Orphanet J Rare Dis. 2017; 12: 31. Published online 2017 Feb 13. doi: 10.1186/s13023-017-0580-x

PMCID:: PMC5307643

Abstract Article PDF–1.4M

Select item 64118697.

TRIAD3/RNF216 E3 ligase specifically synthesises K63-linked ubiquitin chains and is inactivated by mutations associated with Gordon Holmes syndrome

Lukas Schwintzer, Eva Aguado Roca, Meike Broemer

Cell Death Discov. 2019; 5: 75. Published online 2019 Mar 11. doi: 10.1038/s41420-019-0158-6

PMCID:: PMC6411869

Abstract Article PDF–1.6M

Select item 53345348.

TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation

Nilofer Husain, Qiang Yuan, Yi‐Chun Yen, Olga Pletnikova, Dong Qianying Sally, Paul Worley, Zoë Bichler, H. Shawn Je

Aging Cell. 2017 Apr; 16(2): 281–292. Published online 2016 Dec 20. doi: 10.1111/acel.12551

PMCID:: PMC5334534

Abstract Article PDF–1.4M

Select item 53934939.

Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

A. Kemal Topaloglu, Alejandro Lomniczi, Doris Kretzschmar, Gregory A. Dissen, L. Damla Kotan, Craig A. McArdle, A. Filiz Koc, Ben C. Hamel, Metin Guclu, Esra D. Papatya, Erdal Eren, Eda Mengen, Fatih Gurbuz, Mandy Cook, Juan M. Castellano, M. Burcu Kekil, Neslihan O. Mungan, Bilgin Yuksel, Sergio R. Ojeda

J Clin Endocrinol Metab. 2014 Oct; 99(10): E2067–E2075. Published online 2014 Jul 17. doi: 10.1210/jc.2014-1836

PMCID:: PMC5393493

Abstract Article

Select item 108317110.

Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency.

J Berciano, J A Amado, J Freijanes, M Rebollo, A Vaquero

J Neurol Neurosurg Psychiatry. 1982 Aug; 45(8): 747–751. doi: 10.1136/jnnp.45.8.747

Correction in:: J Neurol Neurosurg Psychiatry. 1983 May; 46(5): 472.

PMCID:: PMC1083171

Summary Page Browse PDF–844K

Select item 1016945711.

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome

Nazlı Durmaz Çelik, Ebru Erzurumluoğlu, Serkan Özben, Uğur Toprak, Göknur Yorulmaz, Sevilhan Artan, Serhat Özkan

BMC Med Genomics. 2023; 16: 98. Published online 2023 May 9. doi: 10.1186/s12920-023-01529-4

PMCID:: PMC10169457

Abstract Article PDF–1.1M

Select item 999166612.

Trends and factors associated with the nutritional status of adolescent girls in Ghana: a secondary analysis of the 2003–2014 Ghana demographic and health survey (GDHS) data

Fusta Azupogo, Abdul-Razak Abizari, Elisabetta Aurino, Aulo Gelli, Saskia JM Osendarp, Hilde Bras, Edith JM Feskens, Inge D Brouwer

Public Health Nutr. 2022 Jul; 25(7): 1912–1927. Published online 2021 Sep 6. doi: 10.1017/S1368980021003827

PMCID:: PMC9991666

Abstract Article PDF–606K

Select item 393767413.

Glycerol Dehydrogenase Plays a Dual Role in Glycerol Metabolism and 2,3-Butanediol Formation in Klebsiella pneumoniae

Yu Wang, Fei Tao, Ping Xu

J Biol Chem. 2014 Feb 28; 289(9): 6080–6090. Published online 2014 Jan 15. doi: 10.1074/jbc.M113.525535

PMCID:: PMC3937674

Abstract Article PDF–1.7M

Select item 390010914.

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

Chang-He Shi, Jonathan C. Schisler, Carrie E. Rubel, Song Tan, Bo Song, Holly McDonough, Lei Xu, Andrea L. Portbury, Cheng-Yuan Mao, Cadence True, Rui-Hao Wang, Qing-Zhi Wang, Shi-Lei Sun, Stephanie B. Seminara, Cam Patterson, Yu-Ming Xu

Hum Mol Genet. 2014 Feb 15; 23(4): 1013–1024. Published online 2013 Oct 9. doi: 10.1093/hmg/ddt497

PMCID:: PMC3900109

Abstract Article PDF–1.7M

Select item 389145015.

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Matthis Synofzik, Michael A. Gonzalez, Charles Marques Lourenco, Marie Coutelier, Tobias B. Haack, Adriana Rebelo, Didier Hannequin, Tim M. Strom, Holger Prokisch, Christoph Kernstock, Alexandra Durr, Ludger Schöls, Marcos M. Lima-Martínez, Amjad Farooq, Rebecca Schüle, Giovanni Stevanin, Wilson Marques, Jr., Stephan Züchner

Brain. 2014 Jan; 137(1): 69–77. Published online 2013 Dec 18. doi: 10.1093/brain/awt326

PMCID:: PMC3891450

Abstract Article PDF–522K

Select item 468440416.

Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants

Alyson Sujkowski, Shirley Rainier, John K. Fink, Robert J. Wessells

PLoS One. 2015; 10(12): e0145356. Published online 2015 Dec 15. doi: 10.1371/journal.pone.0145356

PMCID:: PMC4684404

Abstract Article PDF–3.1M

Select item 597002717.

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias

Hélio Afonso Ghizoni Teive, Carlos Henrique F. Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L. Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B. Seminara, Renato Puppi Munhoz

Cerebellum. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Cerebellum. 2018 Jun; 17(3): 380–385. doi: 10.1007/s12311-017-0909-y