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Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes.
Rocha CF, Vasques RB, Santos SR, Paiva CL. Rocha CF, et al. Genet Mol Res. 2016 Feb 22;15(1). doi: 10.4238/gmr.15017942. Genet Mol Res. 2016. PMID: 26910004 Free article. Review.
The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms. ...Scientific articles published in the (National Center for Biotechnology Information; NCBI http://www.ncbi.nlm. …
The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and …
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Guterman S, Beneteau C, Redon S, Dupont C, Missirian C, Jaeger P, Herve B, Jacquin C, Douet-Guilbert N, Till M, Tabet AC, Moradkhani K, Malan V, Doco-Fenzy M, Vialard F. Guterman S, et al. Prenat Diagn. 2019 Sep;39(10):871-882. doi: 10.1002/pd.5498. Epub 2019 Jul 5. Prenat Diagn. 2019. PMID: 31172545 Review.
OBJECTIVE/METHOD: 1p36 deletion syndrome is considered to be the most common deletion after 22q11.2 deletion. ...The 1p36 deletion was the only chromosomal abnormality in eight cases and was associated with a complex chromosome …
OBJECTIVE/METHOD: 1p36 deletion syndrome is considered to be the most common deletion after 22q11.2 deletion …
Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review.
Greco M, Ferrara P, Farello G, Striano P, Verrotti A. Greco M, et al. Epilepsy Res. 2018 Jan;139:92-101. doi: 10.1016/j.eplepsyres.2017.11.016. Epub 2017 Dec 2. Epilepsy Res. 2018. PMID: 29212048 Review.
1p36 terminal deletion is a recently recognized syndrome with multiple congenital anomalies and intellectual disability. ...Genotype-phenotype correlation in this syndrome is complicated, because of the similar clinical evidence seen in patients with d …
1p36 terminal deletion is a recently recognized syndrome with multiple congenital anomalies and intellectual disability …
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L. Carter LB, et al. Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17. Am J Med Genet A. 2019. PMID: 31207089 Free PMC article. Review.
1p36 deletion syndrome is a well-described condition with a recognizable phenotype, including cognitive impairment, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL). ...PVL or suggestion of "hypoxic insult" was present in 18 …
1p36 deletion syndrome is a well-described condition with a recognizable phenotype, including cognitive impairment, sei …
[An updated review of 1p36 deletion (monosomy) syndrome].
Bello S, Rodríguez-Moreno A. Bello S, et al. Rev Chil Pediatr. 2016 Sep-Oct;87(5):411-421. doi: 10.1016/j.rchipe.2015.12.004. Epub 2016 Feb 12. Rev Chil Pediatr. 2016. PMID: 26875550 Free article. Review. Spanish.
The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion …
The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the prese …
Novel airway findings in a patient with 1p36 deletion syndrome.
Ferril GR, Barham HP, Prager JD. Ferril GR, et al. Int J Pediatr Otorhinolaryngol. 2014 Jan;78(1):157-8. doi: 10.1016/j.ijporl.2013.08.041. Epub 2013 Nov 14. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24290305 Review.
1p36 deletion syndrome comprises a phenotypic presentation that includes central nervous system, cardiac, and craniofacial anomalies. ...Emergent tracheostomy was then performed to secure the airway. Airway anomalies may be associated with 1p36 dele …
1p36 deletion syndrome comprises a phenotypic presentation that includes central nervous system, cardiac, and craniofac …
1p36 tumor suppression--a matter of dosage?
Henrich KO, Schwab M, Westermann F. Henrich KO, et al. Cancer Res. 2012 Dec 1;72(23):6079-88. doi: 10.1158/0008-5472.CAN-12-2230. Epub 2012 Nov 20. Cancer Res. 2012. PMID: 23172308 Review.
A broad range of human malignancies is associated with nonrandom 1p36 deletions, suggesting the existence of tumor suppressors encoded in this region. ...We explore potential interactions among these candidates and propose a model where heterozygous 1p36 deletion …
A broad range of human malignancies is associated with nonrandom 1p36 deletions, suggesting the existence of tumor suppressors encode …
Role of phosphoinositide-specific phospholipase C η2 in isolated and syndromic mental retardation.
Lo Vasco VR. Lo Vasco VR. Eur Neurol. 2011;65(5):264-9. doi: 10.1159/000327307. Epub 2011 Apr 8. Eur Neurol. 2011. PMID: 21474938 Free article. Review.
Deletions in the distal region of the short arm of chromosome 1 (1p36) are widely diffuse, both as somatic abnormalities in tumors and as constitutive in the congenital 1p36 deletion syndrome. The deletion size varies from 1.5 to 10 Mb, w …
Deletions in the distal region of the short arm of chromosome 1 (1p36) are widely diffuse, both as somatic abnormalities in tu …
The TNF Receptor Superfamily in Co-stimulating and Co-inhibitory Responses.
Ward-Kavanagh LK, Lin WW, Šedý JR, Ware CF. Ward-Kavanagh LK, et al. Immunity. 2016 May 17;44(5):1005-19. doi: 10.1016/j.immuni.2016.04.019. Immunity. 2016. PMID: 27192566 Free PMC article. Review.
Here, we focus attention on the subset of TNF superfamily receptors encoded in the immune response locus in chromosomal region 1p36. Recent studies have revealed that these receptors use diverse mechanisms to either co-stimulate or restrict immune responses. ...
Here, we focus attention on the subset of TNF superfamily receptors encoded in the immune response locus in chromosomal region 1p36. …
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