PMC Articles for MedGen (Select 116082) - PMC

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Items: 14

Select item 70056171.

Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

Samar N. Chehimi, Évelin A. Zanardo, José R. M. Ceroni, Amom M. Nascimento, Fabrícia A. R. Madia, Alexandre T. Dias, Gil M. N. Filho, Marília M. Montenegro, Jullian Damasceno, Thaís V. M. M. Costa, Yanca Gasparini, Chong A. Kim, Leslie D. Kulikowski

Mol Genet Genomic Med. 2020 Feb; 8(2): e957. Published online 2019 Sep 30. doi: 10.1002/mgg3.957

PMCID:: PMC7005617

Abstract Article PDF–935K

Select item 47367202.

5p Deletions: Current Knowledge and Future Directions

Joanne M. Nguyen, Krista J. Qualmann, Rebecca Okashah, Amysue Reilly, Mikhail F. Alexeyev, Dennis J. Campbell

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2016 Feb 2.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2015 Sep; 169(3): 224–238. Published online 2015 Aug 3. doi: 10.1002/ajmg.c.31444

PMCID:: PMC4736720

Abstract Article PDF–1.0M

Select item 4941553.

Neurological abnormalities in the `cri-du-chat' syndrome

Jack Colover, Mary Lucas, J. A. Comley, A. M. Roe

J Neurol Neurosurg Psychiatry. 1972 Oct; 35(5): 711–719. doi: 10.1136/jnnp.35.5.711

PMCID:: PMC494155

Summary Page Browse PDF–2.5M

Select item 110571764.

Differences in DNA methylation status explain phenotypic variability in patients with 5p− syndrome

Vanessa Tavares Almeida, Samar N. Chehimi, Gleyson F. S. Carvalho, Yanca Gasparini, Amom M. Nascimento, Lucas L. Vieira, Beatriz M. Wolff, Marília M. Montenegro, Leslie D. Kulikowski

BMC Res Notes. 2024; 17: 121. Published online 2024 Apr 29. doi: 10.1186/s13104-024-06734-7

PMCID:: PMC11057176

Abstract Article PDF–1.2M

Select item 106141045.

Cri-Du-Chat Syndrome Associated With Meningomyelocele: A Case Report

Fatimah A Alabbad, Roqaia Alali, Mohammed Alquraini, Zahra M Alghannam, Mohammed B Alabdullah, Haider H AlMousa

Cureus. 2023 Sep; 15(9): e46279. Published online 2023 Sep 30. doi: 10.7759/cureus.46279

PMCID:: PMC10614104

Abstract Article PDF–611K

Select item 100210916.

Posterior reversible encephalopathy syndrome in a child after burns: A case report and literature review

Xiaoying He, Dandan Shi, Chenyan Long, Jia Yang, Ju Tian

SAGE Open Med Case Rep. 2023; 11: 2050313X231157988. Published online 2023 Mar 15. doi: 10.1177/2050313X231157988

PMCID:: PMC10021091

Abstract Article PDF–2.7M

Select item 98435547.

Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p

Vanessa T. Almeida, Samar N. Chehimi, Yanca Gasparini, Amom M. Nascimento, Gleyson F.S. Carvalho, Marília M. Montenegro, Évelin Aline Zanardo, Alexandre T. Dias, Nilson A. Assunção, Chong A. Kim, Leslie D. Kulikowski

Mol Syndromol. 2023 Jan; 13(6): 527–536. Published online 2022 May 18. doi: 10.1159/000524371

PMCID:: PMC9843554

Abstract Article PDF–935K

Select item 78414768.

Clinical features to distinguish meningitis among young infants at a rural Kenyan hospital

Christina W Obiero, Neema Mturi, Salim Mwarumba, Moses Ngari, Charles Newton, Michael Boele van Hensbroek, James Alexander Berkley

Arch Dis Child. 2021 Feb; 106(2): 130–136. Published online 2020 Aug 20. doi: 10.1136/archdischild-2020-318913

PMCID:: PMC7841476

Abstract Article PDF–741K

Select item 71423779.

Association of a Simplified Finnegan Neonatal Abstinence Scoring Tool With the Need for Pharmacologic Treatment for Neonatal Abstinence Syndrome

Lori A. Devlin, Janis L. Breeze, Norma Terrin, Enrique Gomez Pomar, Henrietta Bada, Loretta P. Finnegan, Kevin E. O’Grady, Hendrée E. Jones, Barry Lester, Jonathan M. Davis

JAMA Netw Open. 2020 Apr; 3(4): e202275. Published online 2020 Apr 8. doi: 10.1001/jamanetworkopen.2020.2275

PMCID:: PMC7142377

Abstract Article

Select item 675922810.

Prenatal Opioid Exposure: Neurodevelopmental Consequences and Future Research Priorities

Elisabeth Conradt, Tess Flannery, Judy L. Aschner, Robert D. Annett, Lisa A. Croen, Cristiane S. Duarte, Alexander M. Friedman, Constance Guille, Monique M. Hedderson, Julie A. Hofheimer, Miranda R. Jones, Christine Ladd-Acosta, Monica McGrath, Angela Moreland, Jenae M. Neiderhiser, Ruby H.N. Nguyen, Jonathan Posner, Judith L. Ross, David A. Savitz, Steven J. Ondersma, Barry M. Lester

Pediatrics. 2019 Sep; 144(3): e20190128. Published online 2019 Sep 2. doi: 10.1542/peds.2019-0128