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Items: 11

1.
Asymmetric cortical development and prognosis in fetuses with isolated mild fetal ventriculomegaly: an observational prospective study
Rong Zhu, Jun Ya Chen, Xin Lin Hou, Li Li Liu, Guo Yu Sun
BMC Pregnancy Childbirth. 2021; 21: 199. Published online 2021 Mar 10. doi: 10.1186/s12884-021-03692-x
PMCID:
PMC7945606
AbstractArticlePDF–7.1M
2.
Formation of the calcarine sulcus: a potential marker to predict the progression in utero of isolated mild fetal ventriculomegaly
Hehong Li, Guangjian Liu, Fangqin Lin, Huiying Liang
Medicine (Baltimore) 2017 Jul; 96(28): e7506. Published online 2017 Jul 14. doi: 10.1097/MD.0000000000007506
PMCID:
PMC5515772
AbstractArticlePDF–446K
3.
Isolated mild fetal ventriculomegaly
M Wyldes, M Watkinson
Arch Dis Child Fetal Neonatal Ed. 2004 Jan; 89(1): F9–F13. doi: 10.1136/fn.89.1.F9
PMCID:
PMC1721643
SummaryPDF–202K
4.
17p13.3 quadruplication: a prenatal and postpartum clinical characterization of a copy number variant
Nicholas Farris, Helena Wu, Sara Said-Delgado, Barrie Suskin, Susan Klugman
Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002196. doi: 10.1101/mcs.a002196
PMCID:
PMC5983170
AbstractArticlePDF–2.0M
5.
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding
Paul R. Mark, Stephen A. Murray, Tao Yang, Alexandra Eby, Angela Lai, Di Lu, Jacob Zieba, Surender Rajasekaran, Elizabeth A. VanSickle, Linda Z. Rossetti, Lucia Guidugli, Kelly Watkins, Meredith S. Wright, Caleb P. Bupp, Jeremy W. Prokop
Cold Spring Harb Mol Case Stud. 2022 Oct; 8(6): a006169. doi: 10.1101/mcs.a006169
PMCID:
PMC9632358
AbstractArticlePDF–16M
6.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis
Ana B. W. Greenberg, Neel H. Mehta, Garrett Allington, Sheng Chih Jin, Andrés Moreno-De-Luca, Kristopher T. Kahle
JAMA Netw Open. 2023 Nov; 6(11): e2343384. Published online 2023 Nov 22. doi: 10.1001/jamanetworkopen.2023.43384
PMCID:
PMC10665979
AbstractArticle
7.
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
Karina C. Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, Alexander Beke, Ema S. Dreseris, Cassandra Wong, Aline Iacovone, Carrie-Lynn Soltys, Riyana Babul-Hirji, Osvaldo Artigalas, Arthur Antolini-Tavares, Anne-Claude Gingras, Eric Campos, Denise P. Cavalcanti, Peter Kannu
Hum Genet. 2023; 142(11): 1571–1586. Published online 2023 Sep 27. doi: 10.1007/s00439-023-02598-2
PMCID:
PMC10602971
AbstractArticlePDF–4.1M
8.
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
PMCID:
PMC8112787
AbstractArticlePDF–1.7M
9.
Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly
Jiamin Wang, Zhu Zhang, Qinqin Li, Hongmei Zhu, Yi Lai, Wei Luo, Shanling Liu, He Wang, Ting Hu
Sci Rep. 2020; 10: 20765. Published online 2020 Nov 27. doi: 10.1038/s41598-020-77400-8
PMCID:
PMC7699619
AbstractArticlePDF–1.2M
10.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J. Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michaël Wiederkehr, Caroline F. Wright, DDD Study, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M. Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond
Am J Hum Genet. 2018 Jan 4; 102(1): 116–132. Published online 2017 Dec 28. doi: 10.1016/j.ajhg.2017.12.002
PMCID:
PMC5777449
AbstractArticlePDF–2.3M
11.
Single and multiple congenic strains for hydrocephalus in the H-Tx rat
Hazel C. Jones, Gin-Fu Chen, Baligh R. Yehia, Barbara J. Carter, Elizabeth J. Akins, Logan C. Wolpin
Mamm Genome. Author manuscript; available in PMC 2010 Aug 29.
Published in final edited form as: Mamm Genome. 2005 Apr; 16(4): 251–261. doi: 10.1007/s00335-004-2390-4
PMCID:
PMC2929525
AbstractArticlePDF–795K

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