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9 in total

Review 1. Eye development genes and known syndromes.

Authors: Anne M Slavotinek
Journal: Mol Genet Metab Date: 2011-09-29 Impact factor: 4.797

2. Long-term risk of glaucoma after congenital cataract surgery.

Authors: Scott R Lambert; Amitabh Purohit; Hillary M Superak; Michael J Lynn; Allen D Beck
Journal: Am J Ophthalmol Date: 2013-04-30 Impact factor: 5.258

Review 3. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors: Anne Slavotinek
Journal: Hum Genet Date: 2018-10-30 Impact factor: 4.132

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

Authors: Vanessa A van Rahden; Erika Fernandez-Vizarra; Malik Alawi; Kristina Brand; Florence Fellmann; Denise Horn; Massimo Zeviani; Kerstin Kutsche
Journal: Am J Hum Genet Date: 2015-03-12 Impact factor: 11.025

5. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Authors: Isabella Wimplinger; Manuela Morleo; Georg Rosenberger; Daniela Iaconis; Ulrike Orth; Peter Meinecke; Israela Lerer; Andrea Ballabio; Andreas Gal; Brunella Franco; Kerstin Kutsche
Journal: Am J Hum Genet Date: 2006-09-06 Impact factor: 11.025

Review 6. Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Authors: Alessia Indrieri; Brunella Franco
Journal: Genes (Basel) Date: 2021-02-11 Impact factor: 4.096

Review 7. Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors: A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal: Mol Vis Date: 2011-06-17 Impact factor: 2.367

8. Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Authors: Sarah Vergult; Bart Leroy; Ilse Claerhout; Björn Menten
Journal: Mol Vis Date: 2013-02-06 Impact factor: 2.367

9. 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.

Authors: Vanessa A van Rahden; Isabella Rau; Sigrid Fuchs; Friederike K Kosyna; Hiram Larangeira de Almeida; Helen Fryssira; Bertrand Isidor; Anna Jauch; Madeleine Joubert; Augusta M A Lachmeijer; Christiane Zweier; Ute Moog; Kerstin Kutsche
Journal: Orphanet J Rare Dis Date: 2014-04-15 Impact factor: 4.123

9 in total