PMC Articles for MedGen (Select 3052) - PMC

Wedad Fallatah, Wei Cui, Erminia Di Pietro, Grace T. Carter, Brittany Pounder, Fabian Dorninger, Christian Pifl, Ann B. Moser, Johannes Berger, Nancy E. Braverman

Front Cell Dev Biol. 2022; 10: 886316. Published online 2022 Jul 11. doi: 10.3389/fcell.2022.886316

PMCID:: PMC9310236

Article PDF–4.6M

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A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report

Aiman M Shawli, Abdulaziz T Nazer, Yasir Khayyat, Mohammed G Alqurashi, Fahad Hakami

Cureus. 2021 Dec; 13(12): e20543. Published online 2021 Dec 20. doi: 10.7759/cureus.20543

PMCID:: PMC8765576

Article PDF–431K

Select item 84985885.

Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE

Li Zhang, Haoran Hu, Desheng Liang, Zhuo Li, Lingqian Wu

Front Genet. 2021; 12: 722694. Published online 2021 Sep 24. doi: 10.3389/fgene.2021.722694

PMCID:: PMC8498588

Article PDF–2.2M

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A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata

Adalgisa Cordisco, Elisabetta Pelo, Mariarosaria Di Tommaso, Roberto Biagiotti

Mol Genet Genomic Med. 2021 Aug; 9(8): e1733. Published online 2021 Jun 10. doi: 10.1002/mgg3.1733

PMCID:: PMC8404227

Article PDF–509K

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Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

Tarik Luisman, Tara Smith, Shawn Ritchie, Karen E. Malone

Orphanet J Rare Dis. 2021; 16: 300. Published online 2021 Jul 6. doi: 10.1186/s13023-021-01889-z

PMCID:: PMC8258949

Article PDF–1.5M

Select item 79753198.

MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata

Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe Ranjeva, Brigitte Chabrol, Charles Raybaud, Francisca Vintila, Patrick J. Cozzone

AJNR Am J Neuroradiol. 2002 Mar; 23(3): 480–483.

PMCID:: PMC7975319

Article PDF–119K

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Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy

Debopam Samanta

eNeurologicalSci. 2020 Mar; 18: 100218. Published online 2019 Dec 4. doi: 10.1016/j.ensci.2019.100218

PMCID:: PMC6911980

Article PDF–2.1M

Select item 664726710.

Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation

Guannan He, Yan Yin, Jing Zhao, Xueyan Wang, Jiaxiang Yang, Xi Chen, Li Ding, Yan Bai

BMC Pediatr. 2019; 19: 250. Published online 2019 Jul 23. doi: 10.1186/s12887-019-1629-x

PMCID:: PMC6647267

Article PDF–5.1M

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Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata

Anna R. Blask, Eva I. Rubio, Kimberly A. Chapman, Anne K. Lawrence, Dorothy I. Bulas

Pediatr Radiol. Author manuscript; available in PMC 2019 Feb 7.

Published in final edited form as: Pediatr Radiol. 2018 Jul; 48(7): 979–991. Published online 2018 Mar 23. doi: 10.1007/s00247-018-4098-8

PMCID:: PMC6365632

Article PDF–2.0M

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X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report

Yan Liu, Li Wang, Bin Xu, Yike Yang, Dan Shan, Qingqing Wu

Medicine (Baltimore) 2019 Jan; 98(1): e13850. Published online 2019 Jan 4. doi: 10.1097/MD.0000000000013850

PMCID:: PMC6344186

Article PDF–918K

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Chondrodysplasia Punctata with Severe Airway Stenosis

Bobbity Deepthi, Viswas Chhapola, Sandeep Kumar Kanwal, Ankita Goel Sharma, Virendra Kumar

Indian J Crit Care Med. 2018 Jul; 22(7): 552–554. doi: 10.4103/ijccm.IJCCM_105_18

PMCID:: PMC6069301

Article PDF–588K

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Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review

Hadeel Alrukban, David Chitayat

Appl Clin Genet. 2018; 11: 31–44. Published online 2018 Apr 20. doi: 10.2147/TACG.S150982

PMCID:: PMC5918624

Article PDF–177K

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Severe phenotype of X‐linked dominant chondrodysplasia punctata

Nadirah Damseh, Karen Chong, Christian Marshall, Lisa Kratz, Ronni Teitelbaum, Patrick Shannon, Peter Kannu

Clin Case Rep. 2017 Sep; 5(9): 1435–1437. Published online 2017 Jul 20. doi: 10.1002/ccr3.1008

PMCID:: PMC5582310

Article PDF–715K

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Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis

Andrea Sanfilippo, Stefano Bartoletti

Radiol Case Rep. 2010; 5(1): 308. Published online 2015 Nov 6. doi: 10.2484/rcr.v5i1.308

PMCID:: PMC4898183

Article PDF–1.4M

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Rare Case of Rhizomelic Chondrodysplasia Punctata

Yashwant Mahale, Vikram V. Kadu, Amit Chaudhari

J Orthop Case Rep. 2015 Jul-Sep; 5(3): 38–40. doi: 10.13107/jocr.2250-0685.303

PMCID:: PMC4719397

Article PDF–1.4M

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Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

Jessie C. Jacobsen, Emma Glamuzina, Juliet Taylor, Brendan Swan, Shona Handisides, Callum Wilson, Michael Fietz, Tessa van Dijk, Bart Appelhof, Rosamund Hill, Rosemary Marks, Donald R. Love, Stephen P. Robertson, Russell G. Snell, Klaus Lehnert

Case Rep Genet. 2015; 2015: 454526. Published online 2015 Oct 26. doi: 10.1155/2015/454526