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Best matches for dandy-walker:

A late presentation of Dandy-Walker malformation and aortic coarctation. Venturini E et al. J Cardiovasc Med (Hagerstown). (2017)

[Genetic analysis of two cases with Dandy-Walker deformed fetus]. Yao J et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. (2017)

Foveal hypoplasia associated with Dandy-Walker syndrome. Ebrahimiadib N et al. Can J Ophthalmol. (2017)

Search results

Items: 1 to 20 of 1493

1.

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

McNiven V, Ito YA, Hartley T, Kernohan K, Miller E; Care4Rare Canada, Armour CM.

Am J Med Genet A. 2019 Feb 17. doi: 10.1002/ajmg.a.61095. [Epub ahead of print]

PMID:
30773799
2.

Association of Klippel-Feil syndrome, Dandy-Walker malformation, spina bifida: A case report.

Pirino A, Sotgiu MA, Cosmi E, Montella A, Bandiera P.

Radiol Case Rep. 2019 Jan 15;14(3):415-418. doi: 10.1016/j.radcr.2018.12.012. eCollection 2019 Mar.

3.

The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.

Arora V, Puri RD, Bhai P, Sharma N, Bijarnia-Mahay S, Dimri N, Baijal A, Saxena R, Verma I.

Am J Med Genet A. 2019 Mar;179(3):480-485. doi: 10.1002/ajmg.a.61030. Epub 2019 Jan 28.

PMID:
30690882
4.

The value of CSF flow studies in the management of CSF disorders in children: a pictorial review.

Mohammad SA, Osman NM, Ahmed KA.

Insights Imaging. 2019 Jan 28;10(1):3. doi: 10.1186/s13244-019-0686-x. Review.

5.

Reversible intracranial hypertension following treatment of an extracranial vascular malformation: case report.

Pricola Fehnel K, Klein J, Warf BC, Smith ER, Orbach DB.

J Neurosurg Pediatr. 2019 Jan 4:1-5. doi: 10.3171/2018.10.PEDS18235. [Epub ahead of print]

PMID:
30611152
6.

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.

Linpeng S, Liu J, Pan J, Cao Y, Teng Y, Liang D, Li Z, Wu L.

Biomed Res Int. 2018 Nov 15;2018:4032543. doi: 10.1155/2018/4032543. eCollection 2018.

7.

Differential aspect of the posterior fossa at 12-13 weeks of gestation in Dandy-Walker malformation vs Blake's pouch cyst.

Paladini D, Donarini G, Parodi S, Chaoui R.

Ultrasound Obstet Gynecol. 2018 Dec 21. doi: 10.1002/uog.20190. [Epub ahead of print]

PMID:
30575134
8.

Ligneous conjunctivitis in a Dandy-Walker syndrome: A rare case report.

Srirampur A, Ramappa M, Chaurasia S, Vemuganti G.

Indian J Ophthalmol. 2019 Jan;67(1):143-145. doi: 10.4103/ijo.IJO_772_18.

9.

Prenatal diagnosis of cervical ribs by three-dimensional ultrasound in a foetus with a herniated Dandy-Walker cyst.

Schut P, Verdijk RM, Joosten M, Eggink AJ.

BMJ Case Rep. 2018 Dec 18;11(1). pii: e225381. doi: 10.1136/bcr-2018-225381.

PMID:
30567892
10.

Differential Diagnoses and Their Implications of Dandy-Walker Malformation or Isolated Cisterna Magna, a Case Study: Baby V.

Weaver NL, Bradshaw WT, Blake SM.

Neonatal Netw. 2018 Nov;37(6):358-364. doi: 10.1891/0730-0832.37.6.358.

PMID:
30567885
11.

Dandy-Walker variant with precocious puberty: a rare association.

Rajput R, Mishra S, Ahlawat P, Yadav PK.

BMJ Case Rep. 2018 Nov 28;11(1). pii: e226281. doi: 10.1136/bcr-2018-226281.

PMID:
30567100
12.

Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.

Boujtat K, Rouf S, Boutahar I, Skiker I, Tajir M, Latrech H.

Pediatr Endocrinol Rev. 2018 Dec;16(2):275-283. doi: 10.17458/per.vol16.2018.ellisvananddandywaler.

PMID:
30556660
13.

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation.

Iida A, Takeshita E, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Kurosawa K, Inoue K, Goto YI.

Hum Genome Var. 2018 Dec 5;6:1. doi: 10.1038/s41439-018-0032-8. eCollection 2019.

14.

Management of hydrocephalus in infants with severe hemophilia A: report of 2 cases.

Bergin SM, Dunn AL, Smith LGF, Drapeau AI.

J Neurosurg Pediatr. 2018 Oct 1:1-5. doi: 10.3171/2018.8.PEDS18409. [Epub ahead of print]

PMID:
30485223
15.

Dandy-Walker Malformation-Like Condition Revealed by Refractory Schizophrenia: A Case Report and Literature Review.

Tréhout M, Zhang N, Blouet M, Borha A, Dollfus S.

Neuropsychobiology. 2018 Nov 16:1-8. doi: 10.1159/000494695. [Epub ahead of print] Review.

16.

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

Vandervore LV, Schot R, Hoogeboom AJM, Lincke C, de Coo IF, Lequin MH, Dremmen M, van Unen LMA, Saris JJ, Jansen AC, van Slegtenhorst MA, Wilke M, Mancini GMS.

Eur J Med Genet. 2018 Dec;61(12):783-789. doi: 10.1016/j.ejmg.2018.10.018. Epub 2018 Oct 31.

PMID:
30391508
17.

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.

Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, Hadid Y, Mahroum M, Bajar J, Egenburg S, Arad A, Shohat M, Haddad S, Bakry H, Moshiri H, Scherer SW, Tzur S, Dror Y.

J Med Genet. 2018 Oct 16. pii: jmedgenet-2018-105421. doi: 10.1136/jmedgenet-2018-105421. [Epub ahead of print]

PMID:
30327448
18.

Developmental outcomes in children with congenital cerebellar malformations.

Pinchefsky EF, Accogli A, Shevell MI, Saint-Martin C, Srour M.

Dev Med Child Neurol. 2019 Mar;61(3):350-358. doi: 10.1111/dmcn.14059. Epub 2018 Oct 15.

PMID:
30320441
19.

The Impact of Prenatal Diagnosis of Selected Central Nervous System Anomalies for Prenatal Counselling Based on Significant Pregnancy Morbidity and Neonatal Outcomes.

Morton CC, Metcalfe A, Yusuf K, Sibbald B, Wilson RD.

J Obstet Gynaecol Can. 2019 Feb;41(2):166-173.e1. doi: 10.1016/j.jogc.2018.03.130. Epub 2018 Oct 10.

PMID:
30316708
20.

Less known aspects of central hypothyroidism: Part 2 - Congenital etiologies.

Benvenga S, Klose M, Vita R, Feldt-Rasmussen U.

J Clin Transl Endocrinol. 2018 Sep 27;14:5-11. doi: 10.1016/j.jcte.2018.09.004. eCollection 2018 Dec. Review.

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