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Select item 105403671.

Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report

Yuki Masuda, Yoko Nagayasu, Hikaru Murakami, Ruri Nishie, Natsuko Morita, Sosuke Hashida, Atsushi Daimon, Misa Nunode, Hiroshi Maruoka, Masae Yoo, Takumi Sano, Yutaka Odanaka, Satoe Fujiwara, Daisuke Fujita, Nobuhiko Okamoto, Masahide Ohmichi

J Med Case Rep. 2023; 17: 411. Published online 2023 Sep 29. doi: 10.1186/s13256-023-04149-9

PMCID:: PMC10540367

Abstract Article PDF–1.1M

Select item 10130142.

A Case of Trisomy 9

Murray Feingold, Leonard Atkins

J Med Genet. 1973 Jun; 10(2): 184–187. doi: 10.1136/jmg.10.2.184

PMCID:: PMC1013014

Summary Page Browse PDF–1.3M

Select item 10831683.

Joubert–Boltshauser syndrome with polydactyly in siblings

J Egger, MH Bellman, EM Ross, M Baraitser

J Neurol Neurosurg Psychiatry. 1982 Aug; 45(8): 737–739. doi: 10.1136/jnnp.45.8.737

PMCID:: PMC1083168

Summary Page Browse PDF–662K

Select item 12368654.

Cardiac abnormalities in familial palmoplantar keratosis.

N Protonotarios, A Tsatsopoulou, P Patsourakos, D Alexopoulos, P Gezerlis, S Simitsis, G Scampardonis

Br Heart J. 1986 Oct; 56(4): 321–326. doi: 10.1136/hrt.56.4.321

PMCID:: PMC1236865

Summary Page Browse PDF–1.5M

Select item 14461015.

Function of the Neuron-specific Alternatively Spliced Isoforms of Nonmuscle Myosin II-B during Mouse Brain Development

Xuefei Ma, Sachiyo Kawamoto, Jorge Uribe, Robert S. Adelstein

Mol Biol Cell. 2006 May; 17(5): 2138–2149. doi: 10.1091/mbc.E05-10-0997

PMCID:: PMC1446101

Abstract Article PDF–814K

Select item 21701936.

Neuroradiological features of six kindreds with MELAS tRNA^Leu A3243G point mutation: implications for pathogenesis

C Sue, D Crimmins, Y Soo, R Pamphlett, C Presgrave, N Kotsimbos, M Jean-Francois, E Byrne, J Morris

J Neurol Neurosurg Psychiatry. 1998 Aug; 65(2): 233–240. doi: 10.1136/jnnp.65.2.233

PMCID:: PMC2170193

Summary PDF–252K

Select item 32585637.

Simvastatin Modulates Remodeling of Kv4.3 Expression in Rat Hypertrophied Cardiomyocytes

Feifei Su, Miaoqian Shi, Zhiqiang Yan, Dongbo Ou, Juntang Li, Zifan Lu, Qiangsun Zheng

Int J Biol Sci. 2012; 8(2): 236–248. Published online 2012 Jan 6. doi: 10.7150/ijbs.8.236

PMCID:: PMC3258563

Abstract Article PDF–1.3M

Select item 35784978.

Glioma is formed by active Akt1 alone and promoted by active Rac1 in transgenic zebrafish

In Hye Jung, Ga Lam Leem, Dawoon E. Jung, Min Hee Kim, Eun Young Kim, Se Hoon Kim, Hae-Chul Park, Seung Woo Park

Neuro Oncol. 2013 Mar; 15(3): 290–304. Published online 2013 Jan 16. doi: 10.1093/neuonc/nos387

PMCID:: PMC3578497

Abstract Article PDF–2.5M

Select item 37347449.

Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy

Ryan P Morrissey, Kiran J Philip, Ernst R Schwarz

Cardiovasc J Afr. 2011 Feb; 22(1): 38–44.

PMCID:: PMC3734744

Abstract Article PDF–1.0M

Select item 422282510.

Arrhythmogenic right ventricular cardiomyopathy (ARVC): cardiovascular magnetic resonance update

Anneline SJM te Riele, Harikrishna Tandri, David A Bluemke

J Cardiovasc Magn Reson. 2014; 16(1): 50. Published online 2014 Jul 20. doi: 10.1186/s12968-014-0050-8

PMCID:: PMC4222825

Abstract Article PDF–1.1M

Select item 491387711.

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, Dietz Rating, Romina Romaniello, Filippo Maria Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria Valente

Eur J Hum Genet. 2016 Aug; 24(9): 1262–1267. Published online 2016 Mar 2. doi: 10.1038/ejhg.2016.19

PMCID:: PMC4913877

Abstract Article PDF–797K

Select item 657370012.

Regulation of Purkinje Cell Alignment by Reelin as Revealed with CR-50 Antibody

Takaki Miyata, Kazunori Nakajima, Katsuhiko Mikoshiba, Masaharu Ogawa

J Neurosci. 1997 May 15; 17(10): 3599–3609. doi: 10.1523/JNEUROSCI.17-10-03599.1997

PMCID:: PMC6573700

Abstract Article PDF–1.2M

Select item 732526713.

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Xiang Wang, Zhu Zhang, Xueguang Zhang, Ying Shen, Hongqian Liu

Hum Genomics. 2020; 14: 26. Published online 2020 Jun 29. doi: 10.1186/s40246-020-00274-4

PMCID:: PMC7325267

Abstract Article PDF–1.4M

Select item 809599514.

A 7‐YEAR‐OLD BOY WITH MIDLINE CEREBELLAR MASS

Azzam Ismail, Jayne M. Lamont, Deborah A. Tweddle, Andrew D. Pearson, Steven C. Clifford, David W. Ellison

Brain Pathol. 2005 Jul; 15(3): 261. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2005.tb00529.x

PMCID:: PMC8095995

Summary PDF–700K

Select item 811278715.

Case report of a novel phenotype in 18q deletion syndrome

Roxana Elena Bohîlţea, Monica Mihaela Cîrstoiu, Florina Mihaela Nedelea, Natalia Turcan, Tiberiu Augustin Georgescu, Octavian Munteanu, Alexandru Baroş, Anca-Maria Istrate-Ofiţeru, Costin Berceanu

Rom J Morphol Embryol. 2020 Jul-Sep; 61(3): 905–910. Published online 2021 Jan 20. doi: 10.47162/RJME.61.3.29