Literature DB >> 2325092

Focal dermal hypoplasia (Goltz syndrome).

I K Temple1, P MacDowall, M Baraitser, D J Atherton.   

Abstract

Entities:  

Mesh：

Year:  1990        PMID： 2325092      PMCID： PMC1017001          DOI： 10.1136/jmg.27.3.180

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


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  19 in total

1.  FOCAL DERMAL HYPOPLASIA SYNDROME.

Authors:  R J GORLIN; L H MESKIN; W C PETERSON; R W GOLTZ
Journal:  Acta Derm Venereol       Date:  1963       Impact factor: 4.437

2.  [Forms of congenital poikiloderma].

Authors:  P WODNIANSKY
Journal:  Arch Klin Exp Dermatol       Date:  1957

3.  Focal dermal hypoplasia.

Authors:  R Ruiz-Maldonado; A Carnevale; L Tamayo; M Milonas de Montiel
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

4.  Focal dermal hypoplasia syndrome. A review of the literature and report of two cases.

Authors:  R W Goltz; R R Henderson; J M Hitch; J E Ott
Journal:  Arch Dermatol       Date:  1970-01

5.  Variable expression in focal dermal hypoplasia. An example of differential X-chromosome inactivation.

Authors:  M A Wechsler; C M Papa; F Haberman; R W Marion
Journal:  Am J Dis Child       Date:  1988-03

Review 6.  The lines of Blaschko: a review and reconsideration: Observations of the cause of certain unusual linear conditions of the skin.

Authors:  R Jackson
Journal:  Br J Dermatol       Date:  1976-10       Impact factor: 9.302

7.  Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature.

Authors:  M Warburg
Journal:  Acta Ophthalmol (Copenh)       Date:  1970

8.  Multiple squamous papillomas of the esophagus associated with Goltz syndrome.

Authors:  R R Brinson; B M Schuman; L R Mills; S Thigpen; S Freedman
Journal:  Am J Gastroenterol       Date:  1987-11       Impact factor: 10.864

9.  Focal dermal hypoplasia (Goltz syndrome) in a male.

Authors:  J P Fryns; F Dhondt; L Lindemans; H Van den Berghe
Journal:  Acta Paediatr Belg       Date:  1978 Jan-Mar

10.  Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?

Authors:  R Happle; W Lenz
Journal:  Br J Dermatol       Date:  1977-02       Impact factor: 9.302
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  13 in total

Review 1.  A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.

Authors:  Kevin A Maupin; Casey J Droscha; Bart O Williams
Journal:  Bone Res       Date:  2013-03-29       Impact factor: 13.567

2.  Novel mutation in a child with Goltz syndrome.

Authors:  Seema Kapoor; Vidyabrata Ghosh; John A McGrath; Atul Mohan Kochar; Harit Kapoor; Reetika Malik
Journal:  Indian J Pediatr       Date:  2011-07-06       Impact factor: 1.967

3.  Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome.

Authors:  Jared J Barrott; Gabriela M Cash; Aaron P Smith; Jeffery R Barrow; L Charles Murtaugh
Journal:  Proc Natl Acad Sci U S A       Date:  2011-07-18       Impact factor: 11.205

Review 4.  Classification of microphthalmos and coloboma.

Authors:  M Warburg
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

5.  Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.

Authors:  Elizabeth J Bankhead; Mary P Colasanto; Kayla M Dyorich; Milan Jamrich; L Charles Murtaugh; Sabine Fuhrmann
Journal:  Am J Pathol       Date:  2014-11-03       Impact factor: 4.307

6.  A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells.

Authors:  Jason Ross; Julia Busch; Ellen Mintz; Damian Ng; Alexandra Stanley; David Brafman; V Reid Sutton; Ignatia Van den Veyver; Karl Willert
Journal:  Cell Rep       Date:  2014-11-20       Impact factor: 9.423

7.  Focal dermal hypoplasia: a rare case report.

Authors:  Sahana M Srinivas; Ravi Hiremagalore
Journal:  Indian J Dermatol       Date:  2015 Jan-Feb       Impact factor: 1.494

Review 8.  Dysmorphic disorders--an overview.

Authors:  D Donnai
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

9.  Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

Authors:  Dhanya Yesodharan; Uta Meyer Zum Büschenfelde; Kerstin Kutsche; K Mohandas Nair; Sheela Nampoothiri
Journal:  Indian J Pediatr       Date:  2018-01-31       Impact factor: 1.967

10.  Focal dermal hypoplasia: A novel finding in disguise.

Authors:  S Nathwani; K Martin; R Bunyan
Journal:  J Oral Biol Craniofac Res       Date:  2018-02-01
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