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Quoted phrase not found in phrase index: "17q21 Microdeletion Syndrome"
Page 1
A copy number variation morbidity map of developmental delay.
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. Cooper GM, et al. Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. Nat Genet. 2011. PMID: 21841781 Free PMC article.
We identified 59 pathogenic CNVs, including 14 new or previously weakly supported candidates, refined the critical interval for several genomic disorders, such as the 17q21.31 microdeletion syndrome, and identified 940 candidate dosage-sensitive genes. ...
We identified 59 pathogenic CNVs, including 14 new or previously weakly supported candidates, refined the critical interval for several geno …
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.
Karamik G, Tuysuz B, Isik E, Yilmaz A, Alanay Y, Sunamak EC, Durmusalioglu EA, Ozkinay F, Cetin GO, Ozturk N, Mihci E, Nur B. Karamik G, et al. Am J Med Genet A. 2023 Jul;191(7):1814-1825. doi: 10.1002/ajmg.a.63207. Epub 2023 Apr 13. Am J Med Genet A. 2023. PMID: 37053206 Review.
Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.31 including KANSL1 gene or intragenic pathogenic variants in KANSL1 gene. Here, we describe the clinical and genetic spectrum of eight Turkish chil …
Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.31 inclu …
If not Angelman, what is it? A review of Angelman-like syndromes.
Tan WH, Bird LM, Thibert RL, Williams CA. Tan WH, et al. Am J Med Genet A. 2014 Apr;164A(4):975-92. doi: 10.1002/ajmg.a.36416. Am J Med Genet A. 2014. PMID: 24779060 Review.
It is likely that most of those individuals have an AS-like syndrome that is clinically and molecularly distinct from AS. These AS-like syndromes can be broadly classified into chromosomal microdeletion and microduplication syndromes, and single-gene d …
It is likely that most of those individuals have an AS-like syndrome that is clinically and molecularly distinct from AS. These AS-li …
Atypical Cafe-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).
Han AM, Kusari A, Soeprono F, Eichenfield LF. Han AM, et al. Pediatr Dermatol. 2019 Jul;36(4):e97-e98. doi: 10.1111/pde.13849. Epub 2019 May 24. Pediatr Dermatol. 2019. PMID: 31125459 Review.
Koolen-de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. ...We review the cutaneous findings commonly …
Koolen-de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic diso …
Novel microdeletion syndromes detected by chromosome microarrays.
Slavotinek AM. Slavotinek AM. Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Epub 2008 May 30. Hum Genet. 2008. PMID: 18512078 Review.
We have chosen to focus on patients in whom the cytogenetic abnormalities were principally described by array CGH, rather than by G-banded karyotyping or fluorescence in-situ hybridization. The syndromes that we have chosen include the 17q21.31 deletion and 17q21 …
We have chosen to focus on patients in whom the cytogenetic abnormalities were principally described by array CGH, rather than by G-banded k …
Koolen-de Vries syndrome associated with continuous spike-wave in sleep.
Khan AQ, Coorg RK, Gill D, Marini C, Myers KA. Khan AQ, et al. Epileptic Disord. 2022 Oct 1;24(5):928-933. doi: 10.1684/epd.2022.1452. Epileptic Disord. 2022. PMID: 35811432 Free article. English.
Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in KANSL1. ...We describe six children with KdVS found to have continuous spike-wave in sleep (CSWS) on EEG, four of whom were diagnosed with epile …
Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in KANS …
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.
Dingemans AJM, Stremmelaar DE, van der Donk R, Vissers LELM, Koolen DA, Rump P, Hehir-Kwa JY, de Vries BBA. Dingemans AJM, et al. Eur J Hum Genet. 2021 Sep;29(9):1418-1423. doi: 10.1038/s41431-021-00824-x. Epub 2021 Feb 18. Eur J Hum Genet. 2021. PMID: 33603161 Free PMC article.
The Koolen-de Vries syndrome (KdVS) is a multisystem syndrome with variable facial features caused by a 17q21.31 microdeletion or KANSL1 truncating variant. As the facial gestalt of KdVS has resemblance with the gestalt of the 22q11.2 deletion syndr …
The Koolen-de Vries syndrome (KdVS) is a multisystem syndrome with variable facial features caused by a 17q21.31 mic …
Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.
Jing XY, Huang LY, Zhen L, Han J, Li DZ. Jing XY, et al. J Obstet Gynaecol. 2019 Apr;39(3):323-327. doi: 10.1080/01443615.2018.1519693. Epub 2019 Jan 11. J Obstet Gynaecol. 2019. PMID: 30634886
The 17q12 deletion syndrome is a chromosomal anomaly resulting from the interstitial microdeletion of the long arm of chromosome 17. ...Impact statement What is already known on this subject? 17q12 deletion syndrome is a cause of renal abnormalities, maturity …
The 17q12 deletion syndrome is a chromosomal anomaly resulting from the interstitial microdeletion of the long arm of chromoso …
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study; Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB. Koolen DA, et al. Eur J Hum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306646 Free PMC article.
The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristi …
The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clini …
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.
Farnè M, Bernardini L, Capalbo A, Cavarretta G, Torres B, Sanchini M, Fini S, Ferlini A, Bigoni S. Farnè M, et al. Am J Med Genet A. 2022 Feb;188(2):692-707. doi: 10.1002/ajmg.a.62536. Epub 2021 Oct 19. Am J Med Genet A. 2022. PMID: 34665525 Free PMC article. Review.
Koolen-de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. ...Here we present the adult phenotype of a 63-year-old It …
Koolen-de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21 …
35 results