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Page 1
Imprinting disorders in humans: a review.
Butler MG. Butler MG. Curr Opin Pediatr. 2020 Dec;32(6):719-729. doi: 10.1097/MOP.0000000000000965. Curr Opin Pediatr. 2020. PMID: 33148967 Free PMC article. Review.
RECENT FINDINGS: Disorders include Prader-Willi and Angelman syndromes, the first examples of imprinting errors in humans, chromosome 15q11.2-q13.3 duplication, Silver-Russell syndrome, Beckwith-Weidemann syndrome, GNAS gene-related inactivation …
RECENT FINDINGS: Disorders include Prader-Willi and Angelman syndromes, the first examples of imprinting errors in humans, chromosome 15q11. …
Russell-Silver syndrome.
Eggermann T. Eggermann T. Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. Am J Med Genet C Semin Med Genet. 2010. PMID: 20803658 Review.
In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. ...
In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprin …
Silver-Russell Syndrome - Part I: Clinical Characteristics and Genetic Background.
Marczak-Hałupka A, Kalina MA, Tańska A, Chrzanowska KH. Marczak-Hałupka A, et al. Pediatr Endocrinol Diabetes Metab. 2015;20(3):101-6. doi: 10.18544/PEDM-20.03.0009. Pediatr Endocrinol Diabetes Metab. 2015. PMID: 26615046 Free article. Review.
Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogeneous entity, caused by (epi)genetic alternations. ...
Silver-Russell syndrome (SRS) is a rare, clinically and genetically heterogeneous entity, caused by (epi)genetic altern …
Clinical epigenetics: a primer for the practitioner.
Aygun D, Bjornsson HT. Aygun D, et al. Dev Med Child Neurol. 2020 Feb;62(2):192-200. doi: 10.1111/dmcn.14398. Epub 2019 Nov 20. Dev Med Child Neurol. 2020. PMID: 31749156 Free article. Review.
Here we summarize some of the major principles of epigenetics including how epigenetic modifications are: (1) normally reset in the germ line, (2) form an additional layer of interindividual variation, (3) are environmentally sensitive, and (4) change over time in humans. …
Here we summarize some of the major principles of epigenetics including how epigenetic modifications are: (1) normally reset in the germ lin …
Epigenetics in Silver-Russell syndrome.
Rossignol S, Netchine I, Le Bouc Y, Gicquel C. Rossignol S, et al. Best Pract Res Clin Endocrinol Metab. 2008 Jun;22(3):403-14. doi: 10.1016/j.beem.2008.01.012. Best Pract Res Clin Endocrinol Metab. 2008. PMID: 18538282 Review.
Silver-Russell syndrome (SRS) is a clinically heterogeneous syndrome characterized by intra-uterine and postnatal growth retardation with spared cranial growth, dysmorphic features and frequent body asymmetry. ...However, until recent data became avail …
Silver-Russell syndrome (SRS) is a clinically heterogeneous syndrome characterized by intra-uterine and postnata …
[Rare diseases with clinical relevance-the Silver-Russell syndrome].
Neissner C, Schepp C, Rösch WH. Neissner C, et al. Urologe A. 2017 Jul;56(7):876-881. doi: 10.1007/s00120-017-0368-6. Urologe A. 2017. PMID: 28314972 Review. German.
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, craniofacial features, and asymmetry. ...Apart from structural renal anomalies, cryptorchidism and hypospadias occur frequently in boys, whil …
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, c …
Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.
Hitchins MP, Stanier P, Preece MA, Moore GE. Hitchins MP, et al. J Med Genet. 2001 Dec;38(12):810-9. doi: 10.1136/jmg.38.12.810. J Med Genet. 2001. PMID: 11748303 Free PMC article. Review.
The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. ...Two cases of balanced translocations with breakpoints in 17q23.3-q25 and two cases with a hemizygous deletion o …
The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small …
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.
Heldt F, Wallaschek H, Ripperger T, Morlot S, Illig T, Eggermann T, Schlegelberger B, Scholz C, Steinemann D. Heldt F, et al. Eur J Med Genet. 2018 Aug;61(8):421-427. doi: 10.1016/j.ejmg.2018.02.010. Epub 2018 Mar 1. Eur J Med Genet. 2018. PMID: 29501611 Review.
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). …
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3 …
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.
Mercadante F, Busè M, Salzano E, Fragapane T, Palazzo D, Malacarne M, Piccione M. Mercadante F, et al. Ital J Pediatr. 2020 Jul 28;46(1):108. doi: 10.1186/s13052-020-00866-9. Ital J Pediatr. 2020. PMID: 32723361 Free PMC article. Review.
BACKGROUND: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. ...In the last few years, different clinical reports have sugge …
BACKGROUND: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth rest …
Genes, assisted reproductive technology and trans-illumination.
Dias RP, Maher ER. Dias RP, et al. Epigenomics. 2013 Jun;5(3):331-40. doi: 10.2217/epi.13.28. Epigenomics. 2013. PMID: 23750647 Review.
Studies of rare human imprinting disorders such as familial hydatidiform mole, Beckwith-Wiedemann syndrome and familial transient neonatal diabetes mellitus have enabled the identification of genetic (e.g., mutations in KHDC3L [C6ORF221], NLRP2 [NALP2], NLRP7 [NALP7] and Z …
Studies of rare human imprinting disorders such as familial hydatidiform mole, Beckwith-Wiedemann syndrome and familial transient neo …
34 results