scholarly journals Medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome

Neurology ◽  
2009 ◽  
Vol 72 (18) ◽  
pp. 1618-1618 ◽  
Author(s):  
J. R. Crawford ◽  
B. R. Rood ◽  
C. T. Rossi ◽  
G. Vezina
Keyword(s):  
Gorlin Syndrome

A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis

2021 ◽  
pp. 104182
Author(s):  
Karen M. Knapp ◽  
Bridget Fellows ◽  
Shagun Aggarwal ◽  
Ashwin Dalal ◽  
Louise S. Bicknell
Keyword(s):  
Gorlin Syndrome ◽  
Synonymous Variant

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

2021 ◽  
Author(s):  
Karen M. Knapp ◽  
Danielle E. Jenkins ◽  
Rosie Sullivan ◽  
Frederike L. Harms ◽  
Leonie von Elsner ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Gorlin Syndrome ◽  
Phenotypic Spectrum ◽  
Mcm Complex

scholarly journals Progression of Bilateral Striopallidal Calcinosis and Parkinsonism in a Case of Gorlin Syndrome

2009 ◽  
Vol 21 (2) ◽  
pp. 233-235
Author(s):  
B. Habermeyer ◽  
K. Weier ◽  
B. Feil ◽  
P. Fuhr ◽  
A. Gass ◽  
...  
Keyword(s):  
Gorlin Syndrome

scholarly journals Combined Hamartoma of the Retina and Retinal Pigment Epithelium in a Patient with Gorlin Syndrome: Spontaneous Partial Resolution of Traction Caused by Epiretinal Membrane

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
José L. Sánchez-Vicente ◽  
Miguel Contreras-Díaz ◽  
Trinidad Rueda ◽  
Enrique Rodríguez de la Rúa-Franch ◽  
Fredy E. Molina-Socola ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Retinal Pigment Epithelium ◽  
Epiretinal Membrane ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Spontaneous Resolution ◽  
Fundus Examination ◽  
Gorlin Syndrome ◽  
Clinical Context

Purpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS).Methods. Observational case report of a 12-year-old female patient is presented. The diagnosis of CHRRPE was made by OCT and fundus examination, which showed a mound of disorganized tissue originating from retina and retinal pigment epithelium. Epiretinal membrane (EM) was also detected. Genetic study was performed to confirm the diagnosis of GS.Results. The patient was observed for 39 months, showing spontaneous resolution of the traction caused by the EM and improvement in visual acuity (VA), which was 20/80 at initial presentation, rising to 20/40 after follow-up period.Conclusions. The presence of EM in CHR-REP is a cause of reduction of visual acuity. Management of this condition is controversial; however, we would like to highlight that spontaneous resolution of the traction caused by EM is possible, resulting in recovery of VA.

scholarly journals PTCH1+/− Dermal Fibroblasts Isolated from Healthy Skin of Gorlin Syndrome Patients Exhibit Features of Carcinoma Associated Fibroblasts

PLoS ONE ◽  
2009 ◽  
Vol 4 (3) ◽  
pp. e4818 ◽  
Author(s):  
Alexandre Valin ◽  
Stéphanie Barnay-Verdier ◽  
Thomas Robert ◽  
Hugues Ripoche ◽  
Florence Brellier ◽  
...  
Keyword(s):  
Dermal Fibroblasts ◽  
Gorlin Syndrome ◽  
Healthy Skin ◽  
Carcinoma Associated Fibroblasts

Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9

Cell ◽  
1992 ◽  
Vol 69 (1) ◽  
pp. 111-117 ◽  
Author(s):  
Mae R. Gailani ◽  
Sherri J. Bale ◽  
David J. Leffell ◽  
John J. DiGiovanna ◽  
Gary L. Peck ◽  
...  
Keyword(s):  
Tumor Suppressor ◽  
Tumor Suppressor Gene ◽  
Suppressor Gene ◽  
Chromosome 9 ◽  
Gorlin Syndrome ◽  
Developmental Defects ◽  
Putative Tumor Suppressor Gene ◽  
Putative Tumor Suppressor

Keratinocytes from Gorlin Syndrome-induced pluripotent stem cells are resistant against UV radiation

2020 ◽  
Author(s):  
Nana Morita ◽  
Shoko Onodera ◽  
Yuriko Nakamura ◽  
Takashi Nakamura ◽  
Shin-ichi Takahashi ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Uv Radiation ◽  
Pluripotent Stem Cells ◽  
Gorlin Syndrome ◽  
Induced Pluripotent
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