Literature DB >> 2002490

Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.

J Allanson, S Richter.   

Abstract

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Year:  1991        PMID： 2002490      PMCID： PMC1016789          DOI： 10.1136/jmg.28.2.143-a

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  The gene for incontinentia pigmenti is assigned to Xq28.

Authors:  A Sefiani; L Abel; S Heuertz; D Sinnett; L Lavergne; D Labuda; M C Hors-Cayla
Journal:  Genomics       Date:  1989-04       Impact factor: 5.736

2.  Clinical consequence of Xp-.

Authors:  J J Hoo
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

3.  Two cases of X/autosome translocation in females with incontinentia pigmenti.

Authors:  S V Hodgson; B Neville; R W Jones; C Fear; M Bobrow
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

Authors:  L I al-Gazali; R F Mueller; A Caine; A Antoniou; A McCartney; M Fitchett; N R Dennis
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318
  4 in total
  9 in total

1.  Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.

Authors:  Kanwal Qidwai; David M Pearson; Gayle Simpson Patel; Barbara R Pober; Ladonna L Immken; Sau Wai Cheung; Daryl A Scott
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

2.  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

3.  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 4.  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 5.  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

6.  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

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

Authors:  Hiram Larangeira de Almeida; Gabriela Rossi; Luciana Boff de Abreu; Cristina Bergamaschi; Alessandra Banaszeski da Silva; Kerstin Kutsche
Journal:  An Bras Dermatol       Date:  2014 Jan-Feb       Impact factor: 1.896

8.  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.  A Novel 4-Gene Score to Predict Survival, Distant Metastasis and Response to Neoadjuvant Therapy in Breast Cancer.

Authors:  Masanori Oshi; Eriko Katsuta; Li Yan; John M L Ebos; Omar M Rashid; Ryusei Matsuyama; Itaru Endo; Kazuaki Takabe
Journal:  Cancers (Basel)       Date:  2020-05-02       Impact factor: 6.639
  9 in total

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