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Quoted phrase not found in phrase index: "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"
Page 1
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Darling TN, Burton-Akright J, Bagheri M, Dombi E, Gruber A, Jarosinski PF, Martin S, Nathan N, Paul SM, Savage RE, Wolters PL, Schwartz B, Widemann BC, Biesecker LG. Keppler-Noreuil KM, et al. Am J Hum Genet. 2019 Mar 7;104(3):484-491. doi: 10.1016/j.ajhg.2019.01.015. Epub 2019 Feb 22. Am J Hum Genet. 2019. PMID: 30803705 Free PMC article. Clinical Trial.
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. ...Two of the six efficacy endpoints (secondary objectives) suggested that this agent may be efficacious. We observed a decrease in a cerebr …
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. …
Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.
Musani V, Cretnik M, Situm M, Basta-Juzbasic A, Levanat S. Musani V, et al. Dermatology. 2009;219(2):111-8. doi: 10.1159/000219247. Epub 2009 May 14. Dermatology. 2009. PMID: 19439922 Review.
The syndrome is caused by mutations in PTCH1, a tumor suppressor gene located at 9q22.32. We describe a Gorlin syndrome case with typical features of the syndrome and no mutations in PTCH1, but with a large deletion of the 9q22 region that has rarely been des …
The syndrome is caused by mutations in PTCH1, a tumor suppressor gene located at 9q22.32. We describe a Gorlin syndrome case w …
Blue rubber bleb nevus syndrome and pulmonary hypertension: an unusual association.
Giordano C, Battagliese A, di Gioia CR, Campagna D, Benedetti F, Travaglini C, Gallo P, d' Amati G. Giordano C, et al. Cardiovasc Pathol. 2004 Nov-Dec;13(6):317-22. doi: 10.1016/j.carpath.2004.07.004. Cardiovasc Pathol. 2004. PMID: 15556778
INTRODUCTION: Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital systemic angiodysplasia with multiple vascular malformations in the skin, gastrointestinal tract and, less often, in other internal organs and the brain. ...The most striking finding in the l …
INTRODUCTION: Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital systemic angiodysplasia with multiple vascular malf …
Basal cell nevus syndrome: clinical and genetic diagnosis.
García de Marcos JA, Dean-Ferrer A, Arroyo Rodríguez S, Calderón-Polanco J, Alamillos Granados FJ, Poblet E. García de Marcos JA, et al. Oral Maxillofac Surg. 2009 Dec;13(4):225-30. doi: 10.1007/s10006-009-0169-1. Oral Maxillofac Surg. 2009. PMID: 19795138
INTRODUCTION: Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, comprises five main pathological features: nevoid basal cell carcinomas, keratocystic odontogenic tumors, congenital skeletal anomalies, calcification of the falx cerebri, an …
INTRODUCTION: Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, comprises five main pathological f …
Type 2 segmental manifestation of "blue rubber bleb nevus syndrome": a reappraisal of 5 case reports.
Happle R. Happle R. Eur J Dermatol. 2010 May-Jun;20(3):266-8. doi: 10.1684/ejd.2010.0901. Epub 2010 Mar 9. Eur J Dermatol. 2010. PMID: 20215091
"Blue rubber bleb nevus syndrome" is an autosomal dominant trait characterized by multiple cutaneous and extracutaneous angiomas of dark blue color and rubbery consistency. ...Hence, "blue rubber bleb nevus syndrome" can be added to the list of autosom …
"Blue rubber bleb nevus syndrome" is an autosomal dominant trait characterized by multiple cutaneous and extracutaneous angiom …
Dohi Memorial Lecture. New aspects of cutaneous mosaicism.
Happle R. Happle R. J Dermatol. 2002 Nov;29(11):681-92. doi: 10.1111/j.1346-8138.2002.tb00204.x. J Dermatol. 2002. PMID: 12484429
Among the examples of mosaicism of autosomal lethal mutations, phylloid hypomelanosis is a recently recognized neurocutaneous entity caused by mosaic trisomy 13. Possible examples of a type 2 segmental manifestation now include at least fifteen different autosomally domina …
Among the examples of mosaicism of autosomal lethal mutations, phylloid hypomelanosis is a recently recognized neurocutaneous entity caused …
Ciliary body melanocytoma with anterior segment pigment dispersion and elevated intraocular pressure.
Bhorade AM, Edward DP, Goldstein DA. Bhorade AM, et al. J Glaucoma. 1999 Apr;8(2):129-33. J Glaucoma. 1999. PMID: 10209730
METHODS: A 64-year old woman presented with increased IOP and persistent anterior segment inflammation in her right eye. She had undergone a trabeculectomy for uncontrolled IOP before presentation. ...CONCLUSION: Melanocytoma of the ciliary body is a rare intraocular tumor …
METHODS: A 64-year old woman presented with increased IOP and persistent anterior segment inflammation in her right eye. She had unde …
Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man.
Wollenberg A, Butnaru C, Oppel T. Wollenberg A, et al. Acta Derm Venereol. 2002;82(1):55-7. doi: 10.1080/000155502753600911. Acta Derm Venereol. 2002. PMID: 12013201 Free article.
Phacomatosis pigmentokeratotica is a rare but highly characteristic disease defined by the occurrence of an organoid naevus with sebaceous differentiation, a speckled-lentiginous naevus and other associated anomalies. ...Phacomatosis pigmentokeratotica may be associ …
Phacomatosis pigmentokeratotica is a rare but highly characteristic disease defined by the occurrence of an organoid naevus with seba …
Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.
Wolter M, Reifenberger J, Sommer C, Ruzicka T, Reifenberger G. Wolter M, et al. Cancer Res. 1997 Jul 1;57(13):2581-5. Cancer Res. 1997. PMID: 9205058
The human homologue of the Drosophila segment polarity gene patched (PTCH) has recently been identified as the tumor suppressor gene responsible for the nevoid basal cell carcinoma (BCC) syndrome (H. ...The sequence changes in six of these tumors (four PNETs, two BC …
The human homologue of the Drosophila segment polarity gene patched (PTCH) has recently been identified as the tumor suppressor gene …
Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene. Mutations in brief no. 137. Online.
Hasenpusch-Theil K, Bataille V, Laehdetie J, Obermayr F, Sampson JR, Frischauf AM. Hasenpusch-Theil K, et al. Hum Mutat. 1998;11(6):480. doi: 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4. Hum Mutat. 1998. PMID: 10200051
PTCH, the human homologue of the Drosophila segment polarity gene, patched, has been identified as the gene responsible for Gorlin or nevoid basal cell carcinoma syndrome (NBCCS). We report here the characterization of four novel mutations in the human PTCH gene in …
PTCH, the human homologue of the Drosophila segment polarity gene, patched, has been identified as the gene responsible for Gorlin or …