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Endoscopically assisted enucleation of keratocystic odontogenic tumours from ramus, condylar head and neck in Gorlin-Goltz syndrome
Introduction: Gorlin-Goltz syndrome is a rare autosomal-dominant condition, characterised by the presence of multi-system abnormalities and multiple keratocystic odontogenic tumours (KOTs) of the mandible and maxilla, along with basal cell carcinomas. Treatment of KOTs is usually by enucleation, often with treatment of the cystic cavity. Access to mandibular KOTs can be challenging and destructive with associated morbidities if they occur above the ramus.
Source: The British Journal of Oral and Maxillofacial Surgery - December 1, 2015 Category: ENT & OMF Authors: C. Blore, A. Patterson Tags: P 48 Source Type: research

Gorlin-Goltz syndrome: A rare case report
Publication date: Available online 18 December 2015 Source:International Journal of Dental Science and Research Author(s): Mubeen Khan, K.R. Vijayalakshmi, Preeti Rajguru Gorlin-Goltz syndrome (GGS) is a rare genetic disease that is transmitted as an autosomal-dominant trait showing high level of penetrance and varying expressivity affecting multiple systems of the body. Characteristic clinical manifestations include the presence of multiple basal cell carcinomas, odontogenic keratocysts of the jaws, palmar/plantar pits and calcification of falx cerebri. Early diagnosis of GGS is of great importance due to susceptibil...
Source: International Journal of Dental Science and Research - December 22, 2015 Category: Dentistry Source Type: research

Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit
We describe a Gorlin syndrome (GS) case with two different second hit mutations of PTCH1, one in a keratocystic odontogenic tumor (KCOT) and the other in an ovarian leiomyoma. GS is a rare genetic condition manifesting as multiple basal cell nevi associated with other features such as medulloblastomas, skeletal abnormalities, and ovarian fibromas. A 21‐year‐old Japanese woman with a history of two KCOTs was diagnosed with GS according to clinical criteria. A PTCH1 mutation, c.1427del T, was detected in peripheral blood. A novel PTCH1 mutation, c.264_265insAATA, had been found in the maxillary KCOT as a second hit mutat...
Source: American Journal of Medical Genetics Part A - January 18, 2016 Category: Genetics & Stem Cells Authors: Yoshika Akizawa, Toshiyuki Miyashita, Ryo Sasaki, Reiko Nagata, Ryoko Aoki, Ken Ishitani, Yoji Nagashima, Hideo Matsui, Kayoko Saito Tags: Clinical Report Source Type: research

Meier–Gorlin syndrome: An additional Egyptian patient with gastroesophageal reflux, hydronephrosis, renal stones and hypoplastic labia majora and minora with clitromegaly
We report a 4.5year old female child with the classical triad of Meier–Gorlin syndrome (microtia, absent patella and short stature) with normal mentality. She had small triangular face, long peaked nose, high nasal bridge, bilateral low set very small ears (microtia), retromicrognathia, high arched palate, maxillary hypoplasia, decayed teeth, and bilateral partial syndactyly between 2nd and 3rd toes. Our patient had a gastroesophageal reflux, renal stones, hydronephrosis and hypoplastic labia majora and minora with clitromegaly.
Source: Egyptian Journal of Medical Human Genetics - January 24, 2016 Category: Genetics & Stem Cells Source Type: research

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)
Abstract Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor...
Source: Head and Neck Pathology - March 14, 2016 Category: Pathology Source Type: research

Meigs syndrome superimposed on Gorlin syndrome in a 14-year-old girl
Meigs syndrome is a rare complication associated with ovarian fibromas. Although ovarian fibromas are rare in children, they are common in women with Gorlin syndrome (GS) after puberty.
Source: Journal of Pediatric and Adolescent Gynecology - April 10, 2016 Category: OBGYN Authors: Keita Iwasaki, Hiroshi Matsushita, Hideki Murakami, Kazushi Watanabe, Akihiko Wakatsuki Source Type: research

A prospective evaluation of chronic Babesia microti infection in seroreactive blood donors.
CONCLUSION: The findings indicate prolonged seropositivity in blood donors. Although rare, asymptomatic, persistent PCR positivity supports the current policy of indefinite deferral for donors with a history of babesiosis or positive test results. Repeat testing by PCR and serology will be necessary if reinstatement is to be considered. PMID: 27184253 [PubMed - as supplied by publisher]
Source: Transfusion - May 16, 2016 Category: Hematology Authors: Bloch EM, Levin AE, Williamson PC, Cyrus S, Shaz BH, Kessler D, Gorlin J, Bruhn R, Lee TH, Montalvo L, Kamel H, Busch MP Tags: Transfusion Source Type: research

Serologic screening of United States blood donors for Babesia microti using an investigational enzyme immunoassay.
CONCLUSION: The B. microti EIA detected PCR-positive, potentially infectious blood donors in an endemic population and exhibited high specificity among uninfected and unexposed individuals. The EIA promises to provide an effective tool for blood donor screening for B. microti in a format amenable to high-throughput and cost-effective screening. PMID: 27224258 [PubMed - as supplied by publisher]
Source: Transfusion - May 24, 2016 Category: Hematology Authors: Levin AE, Williamson PC, Bloch EM, Clifford J, Cyrus S, Shaz BH, Kessler D, Gorlin J, Erwin JL, Krueger NX, Williams GV, Penezina O, Telford SR, Branda JA, Krause PJ, Wormser GP, Schotthoefer AM, Fritsche TR, Busch MP Tags: Transfusion Source Type: research

Focal dermal hypoplasia (Goltz-Gorlin syndrome) : The cause is now known.
Authors: Giehl KA PMID: 27341828 [PubMed - as supplied by publisher]
Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - June 29, 2016 Category: Dermatology Tags: Hautarzt Source Type: research

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, microtia, and a/hypoplastic patellae. Biallelic partial loss-of-function mutations in multiple components of the pre-replication complex (preRC; ORC1, ORC4, ORC6, CDT1, or CDC6) as well as de novo stabilizing mutations in the licensing inhibitor, GMNN, cause MGS.
Source: The American Journal of Human Genetics - June 29, 2016 Category: Genetics & Stem Cells Authors: Aimee L. Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sanchez-Pulido, Stephen R.F. Twigg, Anne Goriely, Simon J. McGowan, Kerry A. Miller, Indira B. Taylor, Clare Logan, WGS500 Consortium, Sevcan Bozdogan, Sumita Danda, Joanne Dixon, So Tags: Article Source Type: research

Severe Rheumatoid Arthritis Developing in Conjunction with Gorlin Syndrome.
Authors: Scott JF, Bordeaux JS PMID: 27371652 [PubMed - in process]
Source: Journal of Rheumatology - July 3, 2016 Category: Rheumatology Tags: J Rheumatol Source Type: research

Meier –Gorlin syndrome: An additional Egyptian patient with gastroesophageal reflux, hydronephrosis, renal stones and hypoplastic labia majora and minora with clitromegaly
We report a 4.5year old female child with the classical triad of Meier–Gorlin syndrome (microtia, absent patella and short stature) with normal mentality. She had small triangular face, long peaked nose, high nasal bridge, bilateral low set very small ears (microtia), retromicrognathia, high arched palate, maxillary hypoplasia, decayed teeth, and bilateral partial syndactyly between 2nd and 3rd toes. Our patient had a gastroesophageal reflux, renal stones, hydronephrosis and hypoplastic labia majora and minora with clitromegaly.
Source: Egyptian Journal of Medical Human Genetics - June 17, 2016 Category: Genetics & Stem Cells Source Type: research

Mutiple keratocystic odontogenic tumors (KCOT) in a patient with Gorlin syndrome: a case report with late presentation and absence of skin manifestations
Gorlin syndrome is a rare autosomal dominant syndrome characterized by multiple basal cell carcinomas, keratocystic odontogenic tumors (KOT) and falx cerebral calcifications, which occur due to mutation in PTC...
Source: BMC Research Notes - July 22, 2016 Category: Research Authors: Atif Ali Hashmi, Muhammad Muzzammil Edhi, Naveen Faridi, Mervyn Hosein and Mehmood Khan Source Type: research

Meigs Syndrome Superimposed on Gorlin Syndrome in a 14-Year-Old Girl
Meigs syndrome is a rare complication associated with ovarian fibromas. Although ovarian fibromas are rare in children, they are common in women with Gorlin syndrome after puberty.
Source: Journal of Pediatric and Adolescent Gynecology - April 10, 2016 Category: OBGYN Authors: Keita Iwasaki, Hiroshi Matsushita, Hideki Murakami, Kazushi Watanabe, Akihiko Wakatsuki Tags: Case Report Source Type: research

HedgePath reports positive interim data from Phase IIb trial of SUBA-Itraconazole to treat Gorlin Syndrome
US-based, clinical stage biopharmaceutical company HedgePath (HPPI) has reported positive interim data from its Phase IIb clinical trial of SUBA-Itraconazole to treat basal cell carcinoma nevus syndrome (BCCNS), also known as Gorlin Syndrome.
Source: Drug Development Technology - August 3, 2016 Category: Pharmaceuticals Source Type: news