206 related articles for article (PubMed ID: 33043631)
1. Neurological phenotype of Potocki-Lupski syndrome.
Ciaccio C; Pantaleoni C; Milani D; Alfei E; Sciacca FL; Canafoglia L; Erbetta A; D'Arrigo S
Am J Med Genet A; 2020 Oct; 182(10):2317-2324. PubMed ID: 33043631
[TBL] [Abstract][Full Text] [Related]
2. Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.
Franciskovich R; Soler-Alfonso C; Neira-Fresneda J; Lupski JR; McCann-Crosby B; Potocki L
Am J Med Genet A; 2020 Sep; 182(9):2077-2084. PubMed ID: 32656927
[TBL] [Abstract][Full Text] [Related]
3. Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.
Lee CG; Park SJ; Yun JN; Yim SY; Sohn YB
J Korean Med Sci; 2012 Dec; 27(12):1586-90. PubMed ID: 23255863
[TBL] [Abstract][Full Text] [Related]
4. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
5. 17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome.
Sumathipala DS; Mandawala EN; Sumanasena SP; Dissanayake VH
BMC Res Notes; 2015 Sep; 8():506. PubMed ID: 26419729
[TBL] [Abstract][Full Text] [Related]
6. Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay.
Shuib S; Saaid NN; Zakaria Z; Ismail J; Abdul Latiff Z
Malays J Pathol; 2017 Apr; 39(1):77-81. PubMed ID: 28413209
[TBL] [Abstract][Full Text] [Related]
7. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Yuan B; Harel T; Gu S; Liu P; Burglen L; Chantot-Bastaraud S; Gelowani V; Beck CR; Carvalho CM; Cheung SW; Coe A; Malan V; Munnich A; Magoulas PL; Potocki L; Lupski JR
Am J Hum Genet; 2015 Nov; 97(5):691-707. PubMed ID: 26544804
[TBL] [Abstract][Full Text] [Related]
8. Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.
Magoulas PL; Liu P; Gelowani V; Soler-Alfonso C; Kivuva EC; Lupski JR; Potocki L
Am J Med Genet A; 2014 Feb; 164A(2):500-4. PubMed ID: 24311450
[TBL] [Abstract][Full Text] [Related]
9. Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.
Stomnaroska O; Neskovska L
Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2021 Oct; 42(2):91-94. PubMed ID: 34699703
[TBL] [Abstract][Full Text] [Related]
10. Brain white matter abnormalities associated with copy number variants.
Vigdorovich N; Ben-Sira L; Blumkin L; Precel R; Nezer I; Yosovich K; Cross Z; Vanderver A; Lev D; Lerman-Sagie T; Zerem A
Am J Med Genet A; 2020 Jan; 182(1):93-103. PubMed ID: 31622028
[TBL] [Abstract][Full Text] [Related]
11. Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.
Varon A; Whitt Z; Kalika PM; Potocki L; Barbouth DS; Walz K
Am J Med Genet A; 2019 Jul; 179(7):1366-1370. PubMed ID: 31066191
[TBL] [Abstract][Full Text] [Related]
12. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Potocki L; Bi W; Treadwell-Deering D; Carvalho CM; Eifert A; Friedman EM; Glaze D; Krull K; Lee JA; Lewis RA; Mendoza-Londono R; Robbins-Furman P; Shaw C; Shi X; Weissenberger G; Withers M; Yatsenko SA; Zackai EH; Stankiewicz P; Lupski JR
Am J Hum Genet; 2007 Apr; 80(4):633-49. PubMed ID: 17357070
[TBL] [Abstract][Full Text] [Related]
13. The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.
Sanchez-Valle A; Pierpont ME; Potocki L
Am J Med Genet A; 2011 Feb; 155A(2):363-6. PubMed ID: 21271655
[TBL] [Abstract][Full Text] [Related]
14. Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.
Lee CG; Park SJ; Yim SY; Sohn YB
Brain Dev; 2013 Aug; 35(7):681-5. PubMed ID: 23078968
[TBL] [Abstract][Full Text] [Related]
15. Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
Goh ES; Perez IC; Canales CP; Ruiz P; Agatep R; Yoon G; Chitayat D; Dror Y; Shago M; Goobie S; Sgro M; Walz K; Mendoza-Londono R
Am J Med Genet A; 2012 Jul; 158A(7):1579-88. PubMed ID: 22639462
[TBL] [Abstract][Full Text] [Related]
16. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
Montgomery ND; Turcott CM; Tepperberg JH; McDonald MT; Aylsworth AS
Am J Med Genet A; 2013 Jan; 161A(1):198-202. PubMed ID: 23239541
[TBL] [Abstract][Full Text] [Related]
17. Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.
Yusupov R; Roberts AE; Lacro RV; Sandstrom M; Ligon AH
Am J Med Genet A; 2011 Feb; 155A(2):367-71. PubMed ID: 21271656
[TBL] [Abstract][Full Text] [Related]
18. A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
Koehler K; Schuelke M; Hell AK; Schittkowski M; Huebner A; Brockmann K
Am J Med Genet A; 2020 Mar; 182(3):570-575. PubMed ID: 31825161
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic characterization of derivative 22 syndrome: case series and review.
Saxena D; Srivastava P; Tuteja M; Mandal K; Phadke SR
J Genet; 2018 Mar; 97(1):205-211. PubMed ID: 29666339
[TBL] [Abstract][Full Text] [Related]
20. Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature.
Pruccoli J; Graziano C; Locatelli C; Maltoni L; Sheikh Maye HA; Cordelli DM
Genes (Basel); 2021 Sep; 12(10):. PubMed ID: 34680908
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
