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Overgrowth syndromes.
Neylon OM, Werther GA, Sabin MA. Neylon OM, et al. Curr Opin Pediatr. 2012 Aug;24(4):505-11. doi: 10.1097/MOP.0b013e3283558995. Curr Opin Pediatr. 2012. PMID: 22705997 Review.
Perlman syndrome: report, prenatal findings and review.
Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Rivière JP, Rossignol S. Alessandri JL, et al. Am J Med Genet A. 2008 Oct 1;146A(19):2532-7. doi: 10.1002/ajmg.a.32391. Am J Med Genet A. 2008. PMID: 18780370 Review.
We report on a newborn with prenatal sonographic signs of Perlman syndrome, large fetal ascites, nephromegaly and macrosomia. ...No mutation of the GPC3 gene was identified. We review the 28 patients who have been reported with Perlman syndrome. The pr …
We report on a newborn with prenatal sonographic signs of Perlman syndrome, large fetal ascites, nephromegaly and macrosomia. …
Perlman syndrome: four additional cases and review.
Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ. Henneveld HT, et al. Am J Med Genet. 1999 Oct 29;86(5):439-46. Am J Med Genet. 1999. PMID: 10508986 Review.
Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. ...Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlm …
Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryp …
Regulation of RNA decay and cellular function by 3'-5' exoribonuclease DIS3L2.
Luan S, Luo J, Liu H, Li Z. Luan S, et al. RNA Biol. 2019 Feb;16(2):160-165. doi: 10.1080/15476286.2018.1564466. Epub 2019 Jan 13. RNA Biol. 2019. PMID: 30638126 Free PMC article. Review.
DIS3L2, in which mutations have been linked to Perlman syndrome, is an RNA-binding protein with 3'-5' exoribonuclease activity. ...
DIS3L2, in which mutations have been linked to Perlman syndrome, is an RNA-binding protein with 3'-5' exoribonuclease activity …
Molecular biology of Beckwith-Wiedemann syndrome.
Weksberg R, Squire JA. Weksberg R, et al. Med Pediatr Oncol. 1996 Nov;27(5):462-9. doi: 10.1002/(SICI)1096-911X(199611)27:5<462::AID-MPO13>3.0.CO;2-C. Med Pediatr Oncol. 1996. PMID: 8827075 Review.
Overlapping clinical phenotypes are seen in two other disorders, Simpson-Golabi-Behmel syndrome (SGBS) and Perlman syndrome (PS). BWS is a genetically heterogeneous disorder most often associated with normal chromosomes and a negative family history. ...
Overlapping clinical phenotypes are seen in two other disorders, Simpson-Golabi-Behmel syndrome (SGBS) and Perlman syndrome (P …
Risk of tumorigenesis in overgrowth syndromes: a comprehensive review.
Lapunzina P. Lapunzina P. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):53-71. doi: 10.1002/ajmg.c.30064. Am J Med Genet C Semin Med Genet. 2005. PMID: 16010678 Review.
In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the abdomen usually before 10 years of age, mainly embryonal in type. In Perlman syndrome, only Wilms tumor has been recorded, wher …
In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the a …
Molecular mechanisms of neonatal hyperinsulinism.
Giurgea I, Bellanné-Chantelot C, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fékété C, Rahier J, Jaubert F, de Lonlay P. Giurgea I, et al. Horm Res. 2006;66(6):289-96. doi: 10.1159/000095938. Epub 2006 Sep 26. Horm Res. 2006. PMID: 17003566 Free article. Review.
Hyperinsulinaemic hypoglycaemia may be observed in several overlapping syndromes, such as Beckwith-Wiedemann syndrome (BWS), Perlman syndrome, and, more rarely, Sotos syndrome. Mosaic genome-wide paternal isodisomy has recently been reported in patients with clinica …
Hyperinsulinaemic hypoglycaemia may be observed in several overlapping syndromes, such as Beckwith-Wiedemann syndrome (BWS), Perlman …
Clinical phenotypes and Wilms tumor.
Clericuzio CL. Clericuzio CL. Med Pediatr Oncol. 1993;21(3):182-7. doi: 10.1002/mpo.2950210306. Med Pediatr Oncol. 1993. PMID: 8383278 Review.
Specific disorders discussed include the Beckwith-Wiedemann syndrome, which has been localized to 11p15.5; isolated hemihypertrophy; sporadic aniridia, which is almost always associated with del(11p13); genital anomalies, particularly male pseudohermaphroditism and the Denys-Dras …
Specific disorders discussed include the Beckwith-Wiedemann syndrome, which has been localized to 11p15.5; isolated hemihypertrophy; sporadi …