Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki-Lupski syndrome-Reference-Cited by-同舟云学术

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Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki-Lupski syndrome

Published:2013-12-05 Issue:2 Volume:164 Page:500-504
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Magoulas Pilar L.¹²,Liu Pengfei¹,Gelowani Violet¹,Soler-Alfonso Claudia³,Kivuva Emma C.⁴,Lupski James R.¹⁵²,Potocki Lorraine¹²

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

2. Texas Children's Hospital; Houston Texas

3. Division of Medical Genetics; Department of Pediatrics; University of Texas Health Science Center at Houston; Houston Texas

4. Royal Devon and Exeter NHS Foundation Trust; Exeter United Kingdom

5. Department of Pediatrics; Baylor College of Medicine; Houston Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36287/fullpdf

Reference18 articles.

1. Reciprocal crossovers and a positional preference for strand exchange in recombination events results in deletion or duplication of chromosome 17p11.2;Bi;Am J Hum Genet,2003

2. The genetics of idiopathic clubfoot;Dietz;Clin Orthop Relat Res,2002

3. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and mendelizing traits;Dittwald;Genome Res,2013

4. Cardiovascular findings in duplication 17p11.2 syndrome;Jefferies;Genet Med,2012

5. Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1;Lee;Brain Dev,2012

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1. Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing <i>RAI1</i>;OBM Genetics;2024-03-05

2. Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review;Journal of Personalized Medicine;2023-02-28

3. A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele;European Journal of Human Genetics;2022-07-11

4. Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses;Frontiers in Genetics;2021-12-21

5. Anesthesia in a Patient with Potocki–Lupski Syndrome;Case Reports in Anesthesiology;2021-12-04

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