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Items: 1 to 20 of 374

1.

MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities.

Carman KB, Yakut A, Sabuncu I, Yarar C.

Clin Dysmorphol. 2009 Oct;18(4):234-5. doi: 10.1097/MCD.0b013e32832e38a6. No abstract available.

PMID:
19726975
2.

A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS.

Fryssira H, Papathanassiou M, Barbounaki J, Orfanou I, Lagona E, Paikos P.

Clin Dysmorphol. 2002 Oct;11(4):277-81.

PMID:
12401994
3.

A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.

Steichen-Gersdorf E, Griesmaier E, Pientka FK, Kotzot D, Kutsche K.

Clin Dysmorphol. 2010 Apr;19(2):82-4. doi: 10.1097/MCD.0b013e32833593b7. No abstract available.

PMID:
20179582
4.

Corneal pathology in microphthalmia with linear skin defects syndrome.

Kapur R, Tu EY, Toyran S, Shah P, Vangveeravong S, Lloyd WC 3rd, Edward DP.

Cornea. 2008 Jul;27(6):734-8. doi: 10.1097/QAI.0b013e31815b834d.

PMID:
18580270
5.

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.

Happle R, Daniëls O, Koopman RJ.

Am J Med Genet. 1993 Oct 1;47(5):710-3. Review.

PMID:
8267001
6.

Second 46,XX male with MLS syndrome.

Stratton RF, Walter CA, Paulgar BR, Price ME, Moore CM.

Am J Med Genet. 1998 Feb 26;76(1):37-41.

PMID:
9508062
7.

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum.

Fisher RB, Pairaudeau PW, Innes JR, Bartlett RJ, Crow YJ.

Clin Dysmorphol. 2007 Jan;16(1):59-61.

PMID:
17159518
8.

Microphthalmia with linear skin defects syndrome.

García-Rabasco A, De-Unamuno B, Martínez F, Febrer-Bosch I, Alegre-de-Miquel V.

Pediatr Dermatol. 2013 Nov-Dec;30(6):e230-1. doi: 10.1111/j.1525-1470.2012.01735.x. Epub 2012 May 21.

PMID:
22612277
9.

Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.

Almeida HL Jr, Rossi G, Abreu LB, Bergamaschi C, Silva AB, Kutsche K.

An Bras Dermatol. 2014 Jan-Feb;89(1):180-1. doi: 10.1590/abd1806-4841.20142240.

10.

Microphthalmia with linear skin defects: a case report and review.

Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL.

Pediatr Dermatol. 2008 Sep-Oct;25(5):548-52. doi: 10.1111/j.1525-1470.2008.00724.x. Review.

PMID:
18950397
11.

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

van Rahden VA, Rau I, Fuchs S, Kosyna FK, de Almeida HL Jr, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer AM, Zweier C, Moog U, Kutsche K.

Orphanet J Rare Dis. 2014 Apr 15;9:53. doi: 10.1186/1750-1172-9-53.

12.

Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome.

Ming JE, Katowitz J, McDonald-McGinn DM, Schnur RE, Hunter JV, Zackai EH.

Clin Dysmorphol. 1998 Oct;7(4):279-83.

PMID:
9823495
13.

Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome.

Herwig MC, Loeffler KU, Gembruch U, Kuchelmeister K, Müller AM.

Pediatr Dev Pathol. 2014 Nov-Dec;17(6):491-5. doi: 10.2350/13-11-1408-CR.1. Epub 2014 Oct 7.

PMID:
25291437
14.

Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1.

Eng A, Lebel RR, Elejalde BR, Anderson C, Bennett L.

J Am Acad Dermatol. 1994 Oct;31(4):680-2. No abstract available.

PMID:
8089303
15.

An XX male with microphthalmos and sclerocornea.

Kobayashi M, Kiyosawa M, Toyoura T, Tokoro T.

J Pediatr Ophthalmol Strabismus. 1998 Mar-Apr;35(2):122-4. No abstract available.

PMID:
9559515
16.

Keratoglobus and complicated microphthalmos.

Reddy SC.

Indian J Ophthalmol. 1978 Oct;26(3):23-6. No abstract available.

17.

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K.

Am J Hum Genet. 2015 Apr 2;96(4):640-50. doi: 10.1016/j.ajhg.2015.02.002. Epub 2015 Mar 12.

18.

Hamartoma on the hard palate associated with corpus callosum agenesis, microphthalmia, and skin malformation.

Takeyama J, Miyota H, Nagasaka H.

J Oral Maxillofac Surg. 2007 Mar;65(3):553-6. No abstract available.

PMID:
17307607
19.
20.

[Giant-cell retinal dysplasia in microphthalmos].

Mocanu C, Simionescu C.

Oftalmologia. 1994 Oct-Dec;38(4):348-54. Romanian.

PMID:
7947673

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