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Select item 103574641.

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome

Nur Canpolat, Dingxiao Liu, Emine Atayar, Seha Saygili, Nazli Sila Kara, Trudi A. Westfall, Qiong Ding, Bartley J. Brown, Terry A. Braun, Diane Slusarski, Kader Karli Oguz, Yasemin Ozluk, Beyhan Tuysuz, Tugba Tastemel Ozturk, Lale Sever, Osman Ugur Sezerman, Rezan Topaloglu, Salim Caliskan, Massimo Attanasio, Fatih Ozaltin

Clin Genet. Author manuscript; available in PMC 2023 Jul 20.

Published in final edited form as: Clin Genet. 2022 Mar; 101(3): 346–358. Published online 2022 Jan 7. doi: 10.1111/cge.14105

PMCID:: PMC10357464

Article PDF–1.6M

Select item 94785822.

Advantages of CRISPR-Cas9 combined organoid model in the study of congenital nervous system malformations

Li Xiaoshuai, Wang Qiushi, Wang Rui

Front Bioeng Biotechnol. 2022; 10: 932936. Published online 2022 Sep 2. doi: 10.3389/fbioe.2022.932936

PMCID:: PMC9478582

Article PDF–1.1M

Select item 91514933.

Complex central nervous system malformations in a Dutch Warmblood foal

Elizabeth Williams Louie, Ron Streeter, Melinda Story, Peter V. Scrivani, Myra Barrett, Kathleen R. Mullen

J Vet Intern Med. 2022 May-Jun; 36(3): 1173–1178. Published online 2022 Apr 1. doi: 10.1111/jvim.16407

PMCID:: PMC9151493

Article PDF–661K

Select item 83152984.

Congenital Central Nervous System Malformations: A Rare Case of an Encephalocele and Literature Review of Its Associations, Imaging Modalities, Radiological Findings, and Treatments

Bala C Veerabathini, Kaushik Manthani, Ayesha Hussain

Cureus. 2021 Jun; 13(6): e15959. Published online 2021 Jun 27. doi: 10.7759/cureus.15959

PMCID:: PMC8315298

Article PDF–741K

Select item 64632955.

Nervous System Malformations

John Gaitanis, Tomo Tarui

Continuum (Minneap Minn) Author manuscript; available in PMC 2019 Apr 15.

Published in final edited form as: Continuum (Minneap Minn). 2018 Feb; 24(1 CHILD NEUROLOGY): 72–95. doi: 10.1212/CON.0000000000000561

PMCID:: PMC6463295

Article PDF–1.3M

Select item 56631606.

Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation

Anjurani Siddesh, Geetika Gupta, Ram Sharan, Meenal Agarwal, Shubha R. Phadke

Indian J Med Res. 2017 Apr; 145(4): 471–478. doi: 10.4103/ijmr.IJMR_1882_14

PMCID:: PMC5663160

Article PDF–1.1M

Select item 51750677.

Evaluation and prevalence of major central nervous system malformations: a retrospective study

Sadan Tutus, Sezin Ozyurt, Ebru Yilmaz, Gokhan Acmaz, Mustafa Ali Akin

North Clin Istanb. 2014; 1(2): 78–83. Published online 2014 Dec 8. doi: 10.14744/nci.2014.84803

PMCID:: PMC5175067

Article PDF–1.4M

Select item 27045088.

Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients

Maria Leine Guion-Almeida, Siulan Vendramini-Pittoli, Antonio Richieri-Costa

Clin Ophthalmol. 2007 Jun; 1(2): 183–187.

PMCID:: PMC2704508

Article PDF–2.1M

Select item 16474729.

Natural History of Spina Bifida Cystica and Cranium Bifidum Cysticum: Major Central Nervous System Malformations in South Wales, Part IV

K. M. Laurence, B. J. Tew

Arch Dis Child. 1971 Apr; 46(246): 127–138. doi: 10.1136/adc.46.246.127

PMCID:: PMC1647472

Summary Page Browse PDF–1.8M

Select item 159890210.

Comparison of central nervous system malformations in spontaneous absortions in Northern Ireland and south-east England.

J C MacHenry, N C Nevin, J D Merrett

Br Med J. 1979 May 26; 1(6175): 1395–1397. doi: 10.1136/bmj.1.6175.1395

PMCID:: PMC1598902

Summary Page Browse PDF–682K

Select item 104850811.

Risk of recurrence after two children with central nervous system malformations in an area of high incidence.

N C Nevin, W P Johnston

J Med Genet. 1980 Apr; 17(2): 87–92. doi: 10.1136/jmg.17.2.87

PMCID:: PMC1048508

Summary Page Browse PDF–721K

Select item 101572212.

Central nervous system malformations in Mohr's syndrome.

W Reardon, M G Harbord, M A Hall-Craggs, B Kendall, E M Brett, M Baraitser

J Med Genet. 1989 Oct; 26(10): 659–663. doi: 10.1136/jmg.26.10.659

PMCID:: PMC1015722

Summary Page Browse PDF–969K

Select item 101365313.

Cellular content of amniotic fluid as predictor of central nervous system malformations.

M Bobrow, C J Evans, J Noble, C Patel

J Med Genet. 1978 Apr; 15(2): 97–100. doi: 10.1136/jmg.15.2.97

PMCID:: PMC1013653

Summary Page Browse PDF–626K

Select item 1061950514.

Isradipine therapy in Cacna1d^Ile772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities

Gabriel Stölting, Hoang An Dinh, Marina Volkert, Nicole Hellmig, Julia Schewe, Luise Hennicke, Eric Seidel, Herbert Oberacher, Junhui Zhang, Richard P. Lifton, Iris Urban, Melissa Long, Marion Rivalan, Timothy Nottoli, Ute I. Scholl

JCI Insight. 2023 Oct 23; 8(20): e162468. Published online 2023 Oct 23. doi: 10.1172/jci.insight.162468