«GORLIN SYNDROME»に関連する英語の本
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1
Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes ...
SYNONYM: Focal dermal hypoplasia; Goltz-Gorlin syndrome MIM #: 305600 This
X-linked dominant disorder is a disease of mesoec- todermal development, with
primary manifestations in skin, nails, hair, bones, and teeth. Specifically ...
Victor C. Baum, Jennifer E. O'Flaherty,
2007
2
Ultrasound of Fetal Syndromes
ULTRASOUND DIAGNOSIS In three instances, the prenatal ultrasound diagnosis
of Gorlin syndrome has been established as early as 19 weeks' gestation.
Features identified included cleft lip and palate and mild ven- triculomegaly with ...
Beryl R. Benacerraf,
2008
3
Genodermatoses: A Clinical Guide to Genetic Skin Disorders
Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. / Invest
Dermatol 2003;121:478-481. Doctoroff A, Oberlender SA, Purcell SM. Full-face
carbon dioxide laser resurfacing in the management of a patient with the nevoid ...
4
Russell & Rubinstein's Pathology of Tumors of the Nervous ...
(1991b) The incidence of Gorlin syndrome in 173 consecutive cases of
medulloblastoma. BrJ Cancer64: 959–61. Evans, D. G. R., Ladusans, E. J.,
Rimmer, S. et al. (1993) Complications of the naevoid basal cell carcinoma
syndrome: Results ...
Roger E. McLendon, Marc K. Rosenblum, Darell D. Bigner,
2006
5
Principles and Practice of Pediatric Neurosurgery
Approximately 5% of children with Gorlin's syndrome develop medulloblastomas
at a young age, usually younger than 5 years.11,12 Histologically, such Gorlin's
associated medulloblastomas are often desmoplastic and are thought to be ...
A. Leland Albright, Ian F. Pollack,
2011
6
Neurocutaneous Disorders
It has been variously known as basal cell nevus syndrome, Gorlin-Goltz
syndrome, Gorlin syndrome and nevoid basal cell carcinoma syndrome.
Admittedly, none is satisfactory as selection of only one facet (and in blacks a
relatively ...
E. Steve Roach, Van S. Miller,
2004
7
Genetic Predisposition to Cancer, 2Ed
Mutations in PTCH in conditions other than Gorlin syndrome PTCH germline
mutations cause a range of severity in Gorlin syndrome but they have not been
associated with any other heritable syndromes. Somatic mutations in PTCH have
...
Ros Eng, Douglas Easton, Bruce Ponder,
2004
8
Syndromes of the Head and Neck
Dereume JL et al: Syndrome basocellulaire. Dermatologica 170:293–296, 1985.
43. Dezawa M et al: Increase in nucleoli after X-radiation of fibroblasts of patients
with Gorlin syndrome. J Lab Clin Med 134:581–589, 1999. 44. DiSanto S et al: ...
M.S. D.Sc. Regents' Professor Emeritus of Oral Pathology and Genetics at School of Dentistry Robert J. Gorlin D.D.S, D.M.D. M. Michael Cohen Jr., Ph.D. Professor Oral Pathology Faculty of Denistry, Ph.D. Department of Pediatrics and Medical Genetics Raoul C.M. Hennekam M.D., Academic Medical Center University of Amsterdam,
2001
9
Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic ...
Farndon PA, Morris D, Hardy C, McConville C, Weissenbach J, Kilpatrick MW,
Reis A (1994) Analysis of 133 meioses places the genes for nevoid basal cell
carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval
and ...
Martino Ruggieri, Ignacio Pascual Castroviejo, Concezio Di Rocco,
2009
10
A-Z of Syndromes and Inherited Disorders: A Manual for ...
HISTORY. Gorlin's syndrome is a recently described syndrome that has relatively
few specific characteristics. Its importance lies in the inherited predisposition
these children have to develop skin cancers, and also multiple cysts in the jaws.
用語«GORLIN SYNDROME»を含むニュース項目
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Rare Cancer Australia report: a deadly discrepancy in cancer care
The stoic father from rural South Australia has Gorlin Syndrome, a rare type of nevoid basal cell carcinoma syndrome. Despite the punishing ... «The Canberra Times, 6月 15»
HedgePath Pharmaceuticals to receive $2.5M for cancer treatment
... patient tumor burden in patients with basal cell carcinoma nevus syndrome, also known as Gorlin syndrome. Preliminary results are expected ... «San Diego Source, 5月 15»
Improved understanding of protein complex offers insight into DNA …
This will also provide insight into how ORC may be compromised in a subset of patients with Meier-Gorlin syndrome, a form of dwarfism in ... «Biology News Net, 4月 15»
DNA Copy Machine Has Power-Save Mode
... assembly problems, which affect the function of the whole machine and contribute to a dwarfism disorder called Meier-Gorlin syndrome. «Genetic Engineering & Biotechnology News, 3月 15»
Scientists use X-ray vision to probe early stages of DNA 'photocopying'
... which affect the function of the whole machine and contribute to a dwarfism disorder called Meier-Gorlin syndrome. To learn more about how ... «Phys.Org, 3月 15»
This Online Video Series Is Fighting Childhood Obesity -- And The …
She has Gorlin Syndrome, a rare genetic condition that severely predisposes her to skin cancer, meaning her exposure to sunlight must be ... «Huffington Post, 3月 15»
Advancing BCC treatment
In BCNS, or Gorlin syndrome, hundreds of BCCs develop secondary to activation of target genes of the Hedgehog pathway in cells that have ... «ModernMedicine, 2月 15»
Magic Bullets vs. Promiscuous Plants
If you think that's neat, check out Treating Gorlin Syndrome With Green Tea. So have drug companies abandoned their model and started ... «Care2.com, 2月 15»
New cause of child brain tumour condition identified
Most people with Gorlin syndrome have a change in a gene called PTCH1, but the new research has revealed that changes in a gene called ... «The University of Manchester, 12月 14»
Inspirational parents of Teesside recognised at Remembering …
During the operation to have it removed, Xander, suffered two strokes and has since been diagnosed with gorlin syndrome, autism and ... «Gazette Live, 9月 14»