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Items: 1 to 20 of 106

1.
Potocki-Lupski Syndrome in Ethiopian Child: A Case Report
Endayen Deginet, Deme Abdissa, Tadele Hailu
Pediatric Health Med Ther. 2024; 15: 129–131. Published online 2024 Mar 26. doi: 10.2147/PHMT.S451161
PMCID:
PMC10981369
AbstractArticlePDF–400K
2.
Family case of Potocki-Lupski syndrome
L. N. Kolbasin, T. A. Dubrovskaya, G. B. Salnikova, E. N. Solovieva, M. Yu. Donnikov, R. A. Illarionov, A. S. Glotov, L. V. Kovalenko, L. D. Belotserkovtseva
Mol Cytogenet. 2024; 17: 6. Published online 2024 Mar 22. doi: 10.1186/s13039-024-00673-5
PMCID:
PMC10960457
AbstractArticlePDF–1.2M
3.
Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review
Oksana I. Talantseva, Galina V. Portnova, Raisa S. Romanova, Daria A. Martynova, Olga V. Sysoeva, Elena L. Grigorenko
J Pers Med. 2023 Mar; 13(3): 439. Published online 2023 Feb 28. doi: 10.3390/jpm13030439
PMCID:
PMC10053863
AbstractArticlePDF–1.2M
4.
Anesthesia in a Patient with Potocki–Lupski Syndrome
Songhyun Kim, Yunhee Lim, In-Jung Jun, Byunghoon Yoo, Kye-Min Kim
Case Rep Anesthesiol. 2021; 2021: 3313904. Published online 2021 Dec 4. doi: 10.1155/2021/3313904
PMCID:
PMC8665889
AbstractArticlePDF–329K
5.
Case Report: Potocki-Lupski Syndrome in Five Siblings
Alina Grama, Claudia Sîrbe, Diana Miclea, Simona Sorana Cǎinap, Delia Huniadi, Bogdan Bulata, Tudor Lucian Pop
Front Pediatr. 2021; 9: 698629. Published online 2021 Nov 8. doi: 10.3389/fped.2021.698629
PMCID:
PMC8606827
AbstractArticlePDF–492K
6.
Short Stature and Growth Hormone Deficiency in a Subset of Patients with Potocki-Lupski syndrome: Expanding the Phenotype of PTLS
Rachel Franciskovich, Claudia Soler-Alfonso, Juanita Neira-Fresneda, James R. Lupski, Bonnie McCann-Crosby, Lorraine Potocki
Am J Med Genet A. Author manuscript; available in PMC 2021 Sep 16.
Published in final edited form as: Am J Med Genet A. 2020 Sep; 182(9): 2077–2084. Published online 2020 Jul 13. doi: 10.1002/ajmg.a.61741
PMCID:
PMC8445515
AbstractArticlePDF–88K
7.
Case report: Spinal anesthesia for cesarean section in a parturient with Potocki-Lupski syndrome
Junfeng Li, Jie Bao, Di Zhang, Shuzhen Zhou
BMC Anesthesiol. 2021; 21: 216. Published online 2021 Sep 7. doi: 10.1186/s12871-021-01433-3
PMCID:
PMC8422621
AbstractArticlePDF–663K
8.
Objective Measures of Sleep Disturbances in Children with Potocki-Lupski Syndrome
Kevin Kaplan, Caroline McCool, James R. Lupski, Daniel Glaze, Lorraine Potocki
Am J Med Genet A. Author manuscript; available in PMC 2020 Jan 10.
Published in final edited form as: Am J Med Genet A. 2019 Oct; 179(10): 1982–1986. Published online 2019 Jul 24. doi: 10.1002/ajmg.a.61307
PMCID:
PMC6953247
AbstractArticlePDF–63K
9.
A New Patient with Potocki–Lupski Syndrome: A Literature Review
Andrea Domenico Praticò, Raffaele Falsaperla, Renata Rizzo, Martino Ruggieri, Alberto Verrotti, Piero Pavone
J Pediatr Genet. 2018 Mar; 7(1): 29–34. Published online 2017 Jul 27. doi: 10.1055/s-0037-1604479
PMCID:
PMC5809167
AbstractArticlePDF–119K
10.
The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison
Stacey Bissell, Lucy Wilde, Caroline Richards, Jo Moss, Chris Oliver
J Neurodev Disord. 2018; 10: 2. Published online 2018 Jan 10. doi: 10.1186/s11689-017-9221-x
PMCID:
PMC5795277
AbstractArticlePDF–377K
11.
RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome
Sureni V. Mullegama, Joseph T. Alaimo, Michael D. Fountain, Brooke Burns, Amanda Hebert Balog, Li Chen, Sarah H. Elsea
J Pediatr Genet. 2017 Sep; 6(3): 155–164. Published online 2017 Mar 7. doi: 10.1055/s-0037-1599147
PMCID:
PMC5548529
AbstractArticlePDF–308K
12.
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis
Joseph T. Alaimo, Sureni V. Mullegama, Mary Ann Thomas, Sarah H. Elsea
Mol Cytogenet. 2015; 8: 75. Published online 2015 Oct 5. doi: 10.1186/s13039-015-0179-7
PMCID:
PMC4594966
AbstractArticlePDF–790K
13.
17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome
Dulika S. Sumathipala, Eranda N. Mandawala, Samanmalee P. Sumanasena, Vajira H. W. Dissanayake
BMC Res Notes. 2015; 8: 506. Published online 2015 Sep 29. doi: 10.1186/s13104-015-1439-7
PMCID:
PMC4588678
AbstractArticlePDF–1.0M
14.
Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome
Cha Gon Lee, Sang-Jin Park, Jun-No Yun, Shin-Young Yim, Young Bae Sohn
J Korean Med Sci. 2012 Dec; 27(12): 1586–1590. Published online 2012 Dec 7. doi: 10.3346/jkms.2012.27.12.1586
PMCID:
PMC3524443
AbstractArticlePDF–1.5M
15.
Searching for Potocki-Lupski syndrome Phenotype: A Patient with Language Impairment and no Autism
A. Gulhan Ercan-Sencicek, Nicole R. Davis Wright, Stephen J. Frost, Robert K. Fulbright, Susan Felsenfeld, Lesley Hart, Nicole Landi, W. Einar Mencl, Stephan J. Sanders, Kenneth R. Pugh, Matthew W. State, Elena L. Grigorenko
Brain Dev. Author manuscript; available in PMC 2013 Sep 1.
Published in final edited form as: Brain Dev. 2012 Sep; 34(8): 700–703. Published online 2011 Dec 16. doi: 10.1016/j.braindev.2011.11.003
PMCID:
PMC3343226
AbstractArticlePDF–874K
16.
The Severe End of the Spectrum: Hypoplastic Left Heart in Potocki-Lupski syndrome
Amarilis Sanchez-Valle, Mary Ella Pierpont, Lorraine Potocki
Am J Med Genet A. Author manuscript; available in PMC 2012 Feb 1.
Published in final edited form as: Am J Med Genet A. 2011 Feb; 155(2): 363–366. Published online 2011 Jan 13. doi: 10.1002/ajmg.a.33844
PMCID:
PMC3092288
AbstractArticlePDF–305K
17.
Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive
Claudia Soler-Alfonso, Kathleen J. Motil, Catherine L. Turk, Patricia Robbins-Furman, Ellen M. Friedman, Feng Zhang, James R. Lupski, J. Kennard Fraley, Lorraine Potocki
J Pediatr. Author manuscript; available in PMC 2012 Apr 1.
Published in final edited form as: J Pediatr. 2011 Apr; 158(4): 655–659.e2. Published online 2010 Dec 17. doi: 10.1016/j.jpeds.2010.09.062
PMCID:
PMC3059370
AbstractArticlePDF–336K
18.
Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS
Feng Zhang, Lorraine Potocki, Jacinda B. Sampson, Pengfei Liu, Amarilis Sanchez-Valle, Patricia Robbins-Furman, Alicia Delicado Navarro, Patricia G. Wheeler, J. Edward Spence, Campbell K. Brasington, Marjorie A. Withers, James R. Lupski
Am J Hum Genet. 2010 Mar 12; 86(3): 462–470. doi: 10.1016/j.ajhg.2010.02.001
PMCID:
PMC2833368
AbstractArticlePDF–692K
19.
Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype
Lorraine Potocki, Weimin Bi, Diane Treadwell-Deering, Claudia M. B. Carvalho, Anna Eifert, Ellen M. Friedman, Daniel Glaze, Kevin Krull, Jennifer A. Lee, Richard Alan Lewis, Roberto Mendoza-Londono, Patricia Robbins-Furman, Chad Shaw, Xin Shi, George Weissenberger, Marjorie Withers, Svetlana A. Yatsenko, Elaine H. Zackai, Pawel Stankiewicz, James R. Lupski
Am J Hum Genet. 2007 Apr; 80(4): 633–649. Published online 2007 Feb 26. doi: 10.1086/512864
PMCID:
PMC1852712
AbstractArticlePDF–920K
20.
Circulating Levels of Ferritin, RDW, PTLs as Predictive Biomarkers of Postoperative Atrial Fibrillation Risk after Cardiac Surgery in Extracorporeal Circulation
Claudia Altieri, Calogera Pisano, Labriola Vincenzo, Maria Sabrina Ferrante, Valentina Pellerito, Paolo Nardi, Carlo Bassano, Dario Buioni, Ernesto Greco, Giovanni Ruvolo, Carmela Rita Balistreri
Int J Mol Sci. 2022 Dec; 23(23): 14800. Published online 2022 Nov 26. doi: 10.3390/ijms232314800
PMCID:
PMC9741292
AbstractArticlePDF–1.0M

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