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Results: 1 to 20 of 118

1.

Fowler syndrome-a clinical, radiological, and pathological study of 14 cases.

Williams D, Patel C, Fallet-Bianco C, Kalyanasundaram K, Yacoubi M, Déchelotte P, Scott R, Bazin A, Bessières B, Marton T, Cox P.

Am J Med Genet A. 2010 Jan;152A(1):153-60. doi: 10.1002/ajmg.a.33094.

PMID:
20014121
[PubMed - indexed for MEDLINE]
2.

First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy).

Laurichesse-Delmas H, Beaufrère AM, Martin A, Kaemmerlen AG, Déchelotte P, Lémery D.

Ultrasound Obstet Gynecol. 2002 Dec;20(6):612-5. Review.

PMID:
12493052
[PubMed - indexed for MEDLINE]
Free Article
3.

Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type.

Witters I, Moerman P, Devriendt K, Braet P, Van Schoubroeck D, Van Assche FA, Fryns JP.

Am J Med Genet. 2002 Feb 15;108(1):41-4.

PMID:
11857548
[PubMed - indexed for MEDLINE]
4.

The familial syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly: immunocytochemical and ultrastructural evidence for endothelial proliferation.

Harding BN, Ramani P, Thurley P.

Neuropathol Appl Neurobiol. 1995 Feb;21(1):61-7.

PMID:
7770122
[PubMed - indexed for MEDLINE]
5.

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER.

Am J Hum Genet. 2010 Mar 12;86(3):471-8. doi: 10.1016/j.ajhg.2010.02.004. Epub 2010 Mar 4.

PMID:
20206334
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

Bessières-Grattagliano B, Foliguet B, Devisme L, Loeuillet L, Marcorelles P, Bonnière M, Laquerrière A, Fallet-Bianco C, Martinovic J, Zrelli S, Leticee N, Cayol V, Etchevers HC, Vekemans M, Attie-Bitach T, Encha-Razavi F.

Eur J Med Genet. 2009 Nov-Dec;52(6):386-92. doi: 10.1016/j.ejmg.2009.07.006. Epub 2009 Jul 25.

PMID:
19635601
[PubMed - indexed for MEDLINE]
7.

Early ultrasonographic changes in Fowler syndrome features and review of the literature.

Usta IM, AbuMusa AA, Khoury NG, Nassar AH.

Prenat Diagn. 2005 Nov;25(11):1019-23. Review.

PMID:
16231307
[PubMed - indexed for MEDLINE]
8.

Fowler syndrome presenting as a Dandy-Walker malformation: a second case report.

Al-Adnani M, Kiho L, Scheimberg I.

Pediatr Dev Pathol. 2009 Jan-Feb;12(1):68-72. doi: 10.2350/07-09-0348.1.

PMID:
18702566
[PubMed - indexed for MEDLINE]
9.

Re: First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy).

Witters I, Fryns JP.

Ultrasound Obstet Gynecol. 2003 Apr;21(4):411-2. No abstract available.

PMID:
12704756
[PubMed - indexed for MEDLINE]
Free Article
10.

Fetal neuropathology of proliferative vasculopathy and hydranencephaly-hydrocephaly with multiple limb pterygia.

Norman MG, McGillivray B.

Pediatr Neurosci. 1988;14(6):301-6.

PMID:
3270051
[PubMed - indexed for MEDLINE]
11.

The lethal multiple pterygium syndrome: a nosological approach.

de Die-Smulders CE, Schrander-Stumpel CT, Fryns JP.

Genet Couns. 1990;1(1):13-23. Review.

PMID:
2222917
[PubMed - indexed for MEDLINE]
12.

Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses.

Yfantis H, Nonaka D, Castellani R, Harman C, Sun CC.

Prenat Diagn. 2002 Jan;22(1):42-7.

PMID:
11810649
[PubMed - indexed for MEDLINE]
13.

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.

Thomas S, Encha-Razavi F, Devisme L, Etchevers H, Bessieres-Grattagliano B, Goudefroye G, Elkhartoufi N, Pateau E, Ichkou A, Bonnière M, Marcorelle P, Parent P, Manouvrier S, Holder M, Laquerrière A, Loeuillet L, Roume J, Martinovic J, Mougou-Zerelli S, Gonzales M, Meyer V, Wessner M, Feysot CB, Nitschke P, Leticee N, Munnich A, Lyonnet S, Wookey P, Gyapay G, Foliguet B, Vekemans M, Attié-Bitach T.

Hum Mutat. 2010 Oct;31(10):1134-41. doi: 10.1002/humu.21329.

PMID:
20690116
[PubMed - indexed for MEDLINE]
14.

Familial cystic hygroma. Report of 8 cases in 3 families.

Tricoire J, Sarramon MF, Rolland M, Lefort G.

Genet Couns. 1993;4(4):265-9.

PMID:
8110412
[PubMed - indexed for MEDLINE]
15.

Lethal multiple pterygium syndrome: report of a new case with hydranencephaly.

Mbakop A, Cox JN, Störmann C, Delozier-Blanchet CD.

Am J Med Genet. 1986 Nov;25(3):575-9.

PMID:
3789017
[PubMed - indexed for MEDLINE]
16.

Prenatal diagnosis of Walker-Warburg syndrome in three sibs.

Gasser B, Lindner V, Dreyfus M, Feidt X, Leissner P, Treisser A, Stoll C.

Am J Med Genet. 1998 Mar 5;76(2):107-10.

PMID:
9511971
[PubMed - indexed for MEDLINE]
17.

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.

Chen H, Immken L, Lachman R, Yang S, Rimoin DL, Rightmire D, Eteson D, Stewart F, Beemer FA, Opitz JM, et al.

Am J Med Genet. 1984 Apr;17(4):809-26.

PMID:
6720746
[PubMed - indexed for MEDLINE]
18.

Walker-Warburg syndrome: report of three affected sibs.

Rodgers BL, Vanner LV, Pai GS, Sens MA.

Am J Med Genet. 1994 Jan 15;49(2):198-201.

PMID:
8116667
[PubMed - indexed for MEDLINE]
19.

Limb pterygium syndromes: a review and report of eleven patients.

Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM.

Am J Med Genet. 1982 Aug;12(4):377-409.

PMID:
7124793
[PubMed - indexed for MEDLINE]
20.

Lethal multiple pterygium syndrome: three consecutive cases in one family.

Martin NJ, Hill JB, Cooper DH, O'Brien GD, Masel JP.

Am J Med Genet. 1986 Jun;24(2):295-304.

PMID:
3717212
[PubMed - indexed for MEDLINE]

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