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Quoted phrase not found in phrase index: "Chromosome 8Q12.1-q21.2 deletion syndrome"
Page 1
Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.
Paprocka J, Kaminiów K, Yetkin O, Tekturk P, Baykan B, Leiz S, Kluger G, Striano P. Paprocka J, et al. Seizure. 2024 Mar;116:14-23. doi: 10.1016/j.seizure.2022.12.001. Epub 2022 Dec 8. Seizure. 2024. PMID: 36526544 Review.
Wolf-Hirschhorn syndrome (WHS) is araredisorderwithan estimated prevalence being around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region- WHSCR) on chromosome 4p16.3. ...
Wolf-Hirschhorn syndrome (WHS) is araredisorderwithan estimated prevalence being around 1 in 50,000 births. The syndrome is ca …
A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS. Houston BJ, et al. Hum Reprod Update. 2021 Dec 21;28(1):15-29. doi: 10.1093/humupd/dmab030. Hum Reprod Update. 2021. PMID: 34498060 Free PMC article.
BACKGROUND: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but …
BACKGROUND: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome …
Birth Prevalence of Chromosome 22q11.2 Deletion Syndrome: A Systematic Review of Population-Based Studies.
Panamonta V, Wichajarn K, Chaikitpinyo A, Panamonta M, Pradubwong S, Chowchuen B. Panamonta V, et al. J Med Assoc Thai. 2016 Aug;99 Suppl 5:S187-93. J Med Assoc Thai. 2016. PMID: 29906080 Review.
BACKGROUND: A birth prevalence of chromosome 22q11.2 deletion syndrome among population-based reports has been documented to vary, however, a systematic assessment is lacking. OBJECTIVE: To assess the evidence in the literature for the birth prevalence of …
BACKGROUND: A birth prevalence of chromosome 22q11.2 deletion syndrome among population-based reports has been document …
Miller Fischer syndrome after COVID-19 infection and vaccine: a systematic review.
Neophytou P, Artemiadis A, Hadjigeorgiou GM, Zis P. Neophytou P, et al. Acta Neurol Belg. 2023 Oct;123(5):1693-1701. doi: 10.1007/s13760-023-02336-5. Epub 2023 Jul 19. Acta Neurol Belg. 2023. PMID: 37468803 Free PMC article.
BACKGROUND: COVID-19 (CoranaVirus disease 2019) is an ongoing infectious disease caused by the RNA SARS-CoV-2 virus (Severe Acute Respiratory Syndrome CoronaVirus-2). The virus mainly causes respiratory symptoms, but neurological symptoms have also been reported to be part …
BACKGROUND: COVID-19 (CoranaVirus disease 2019) is an ongoing infectious disease caused by the RNA SARS-CoV-2 virus (Severe Acute Respirator …
Biomechanics and mechanical signaling in the ovary: a systematic review.
Shah JS, Sabouni R, Cayton Vaught KC, Owen CM, Albertini DF, Segars JH. Shah JS, et al. J Assist Reprod Genet. 2018 Jul;35(7):1135-1148. doi: 10.1007/s10815-018-1180-y. Epub 2018 Apr 24. J Assist Reprod Genet. 2018. PMID: 29691711 Free PMC article. Review.
Follicular activation or quiescence are influenced by mechanical signaling through the Hippo and Akt pathways involving the yes-associated protein (YAP), transcriptional coactivator with PDZ-binding motif (TAZ), phosphatase and tensin homolog deleted from chromosome …
Follicular activation or quiescence are influenced by mechanical signaling through the Hippo and Akt pathways involving the yes-associated p …
Tremor and Parkinsonism in Chromosomopathies - A Systematic Review.
Carvalho V, Ferreira JJ, Correia Guedes L. Carvalho V, et al. Mov Disord. 2021 Sep;36(9):2017-2025. doi: 10.1002/mds.28663. Epub 2021 May 31. Mov Disord. 2021. PMID: 34056754 Review.
We reviewed the occurrence and characteristics of parkinsonism and tremor syndromes in patients with chromosomic disorders. We searched PubMed for articles published until December 2018, using the non-MESH terms "Chromosomopathy," "karyotype," "chromosome," " …
We reviewed the occurrence and characteristics of parkinsonism and tremor syndromes in patients with chromosomic disorders. We …
PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.
Kramer RJ, Fatahian AN, Chan A, Mortenson J, Osher J, Sun B, Parker LE, Rosamilia MB, Potter KB, Moore K, Atkins SL, Rosenfeld JA, Birjiniuk A, Jones E, Howard TS, Kim JJ, Scott DA, Lalani S, Rouzbehani OMT, Kaplan S, Hathaway MA, Cohen JL, Asaki SY, Martinez HR, Boudina S, Landstrom AP. Kramer RJ, et al. Circ Genom Precis Med. 2023 Aug;16(4):390-400. doi: 10.1161/CIRCGEN.122.003912. Epub 2023 Jul 3. Circ Genom Precis Med. 2023. PMID: 37395136
BACKGROUND: 1p36 deletion syndrome can predispose to pediatric-onset cardiomyopathy. Deletion breakpoints are variable and may delete the transcription factor PRDM16. ...
BACKGROUND: 1p36 deletion syndrome can predispose to pediatric-onset cardiomyopathy. Deletion breakpoints are variable …
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.
Rozas MF, Benavides F, León L, Repetto GM. Rozas MF, et al. Orphanet J Rare Dis. 2019 Aug 9;14(1):195. doi: 10.1186/s13023-019-1170-x. Orphanet J Rare Dis. 2019. PMID: 31399107 Free PMC article. Review.
BACKGROUND: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. ...CONCLUSIONS: The lack of association between deletion size and CH …
BACKGROUND: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromo …
Assessment of Chromosome 22q11.2 Deletion in Patients with Isolated Cleft Palate: A Systematic Review of Prospective Studies.
Panamonta V, Wichajarn K, Wongswadiwat Y, Panamonta M, Pradubwong S, Chowchuen B. Panamonta V, et al. J Med Assoc Thai. 2016 Aug;99 Suppl 5:S194-8. J Med Assoc Thai. 2016. PMID: 29906081 Review.
Among the 328 patients, there was one (0.3%) patient with positive FISH test for 22q11.2 deletion. This patient was clinically assessed and did not have an associated malformation or clinically recognized syndrome. CONCLUSION: The prevalence of 22q11.2 deletion …
Among the 328 patients, there was one (0.3%) patient with positive FISH test for 22q11.2 deletion. This patient was clinically assess …
Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review.
Çalışkan E, Şahin MN, Güldağ MA. Çalışkan E, et al. Yale J Biol Med. 2021 Dec 29;94(4):623-635. eCollection 2021 Dec. Yale J Biol Med. 2021. PMID: 34970101 Free PMC article. Review.
Williams Syndrome (WS) is a rare genetic multisystem disorder that occurs because of a deletion of approximately 25 genes in the 7q11.23 chromosome region. ...Oxytocin (OT), a neuropeptide synthesized at the hypothalamus, plays an important role in cognition …
Williams Syndrome (WS) is a rare genetic multisystem disorder that occurs because of a deletion of approximately 25 genes in t …
47 results