Potocki–Lupski syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Potocki–Lupski syndrome" in English language version.

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24nih.gov

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14doi.org

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5worldcat.org

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3semanticscholar.org

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1escholarship.org

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1orpha.net

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1web.archive.org

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1bcm.edu

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bcm.edu

"About Potocki-Lupski syndrome". Houston, Texas: Baylor College of Medicine. 17 July 2009. Archived from the original on 6 June 2011. Retrieved 26 August 2009.

doi.org

Potocki, Lorraine; Bi, Weimin; Treadwell-Deering, Diane; Carvalho, Claudia M.B.; Eifert, Anna; Friedman, Ellen M.; Glaze, Daniel; Krull, Kevin; et al. (2007). "Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype". The American Journal of Human Genetics. 80 (4): 633–649. doi:10.1086/512864. ISSN 0002-9297. PMC 1852712. PMID 17357070.
Brown, Angela; Phelan, Mary C.; Patil, Sliivanand; Crawford, Eric; Rogers, R. Curtis; Schwartz, Charles (1996). "Two Patients With Duplication of 17~11.2: The Reciprocal of the Smith–Magenis Syndrome Deletion?". American Journal of Medical Genetics. 63 (2): 373–377. doi:10.1002/(SICI)1096-8628(19960517)63:2<373::AID-AJMG9>3.0.CO;2-U. PMID 8725788.
Potocki, Lorraine; Chen, KS; Park, SS; Osterholm, DE; Withers, MA; Kimonis, V; Summers, AM; Meschino, WS; et al. (January 2000). "Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith–Magenis microdeletion". Nature Genetics. 24 (1): 84–87. doi:10.1038/71743. ISSN 1061-4036. PMID 10615134. S2CID 24400634.
Gu, W.; Lupski, James R. (2008). Schmidt, M. (ed.). "CNV and nervous system diseases – what's new?". Cytogenetic and Genome Research. 123 (1–4): 54–64. doi:10.1159/000184692. ISSN 1424-8581. PMC 2920183. PMID 19287139.
Talantseva, OI; Portnova, GV; Romanova, RS (2023). "Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review". Journal of Personalized Medicine. 13 (3). doi:10.3390/jpm13030439. PMC 10053863. S2CID 257271137.
Molina, J; Carmona-Mora, P; Chrast, J; Krall, PM; Canales, CP; Lupski, JR; Reymond, A; Walz, K (15 August 2008). "Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome". Human Molecular Genetics. 17 (16): 2486–95. doi:10.1093/hmg/ddn148. PMID 18469339.
Treadwell-Deering, DE; Powell, MP; Potocki, L (2009). "Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2)". Journal of Developmental and Behavioral Pediatrics. 31 (2): 137–43. doi:10.1097/DBP.0b013e3181cda67e. PMID 20110824. S2CID 24233881.
Walz, Katherina; Paylor, R; Yan, J; Bi, W; Lupski, JR; et al. (November 2006). "Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)". Journal of Clinical Investigation. 116 (11): 3035–3041. doi:10.1172/JCI28953. ISSN 0021-9738. PMC 1590269. PMID 17024248.
Carmona-Mora, P; Molina, J; Encina, CA; Walz, K (June 2009). "Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes". Current Genomics. 10 (4): 259–68. doi:10.2174/138920209788488508. PMC 2709937. PMID 19949547.
Zhang, F; Potocki, L; Sampson, JB; Liu, P; Sanchez-Valle, A; Robbins-Furman, P; Navarro, AD; Wheeler, PG; Spence, JE; Brasington, CK; Withers, MA; Lupski, JR (12 March 2010). "Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS". American Journal of Human Genetics. 86 (3): 462–70. doi:10.1016/j.ajhg.2010.02.001. PMC 2833368. PMID 20188345.
Lupski, James R.; Stankiewicz, Pawel (December 2005). "Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes". PLOS Genetics. 1 (6): e49. doi:10.1371/journal.pgen.0010049. ISSN 1553-7390. PMC 1352149. PMID 16444292.
Carmona-Mora, P; Walz, K (December 2010). "Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior". Current Genomics. 11 (8): 607–17. doi:10.2174/138920210793360952. PMC 3078685. PMID 21629438.
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 (April 2007). "Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype". American Journal of Human Genetics. 80 (4): 633–49. doi:10.1086/512864. PMC 1852712. PMID 17357070.
Sanchez-Jimeno, Carolina; Bustamante-Aragonés, Ana; Infantes-Barbero, Fernando; Rodriguez De Alba, Marta; Ramos, Carmen; Trujillo-Tiebas, María Jose; Lorda-Sánchez, Isabel (December 2014). "Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA". Clinical Case Reports. 2 (6): 303–309. doi:10.1002/ccr3.117. PMC 4270714. PMID 25548634.

escholarship.org

Potocki, Lorraine; Chen, KS; Park, SS; Osterholm, DE; Withers, MA; Kimonis, V; Summers, AM; Meschino, WS; et al. (January 2000). "Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith–Magenis microdeletion". Nature Genetics. 24 (1): 84–87. doi:10.1038/71743. ISSN 1061-4036. PMID 10615134. S2CID 24400634.

nih.gov

pubmed.ncbi.nlm.nih.gov

Potocki, Lorraine; Bi, Weimin; Treadwell-Deering, Diane; Carvalho, Claudia M.B.; Eifert, Anna; Friedman, Ellen M.; Glaze, Daniel; Krull, Kevin; et al. (2007). "Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype". The American Journal of Human Genetics. 80 (4): 633–649. doi:10.1086/512864. ISSN 0002-9297. PMC 1852712. PMID 17357070.
Brown, Angela; Phelan, Mary C.; Patil, Sliivanand; Crawford, Eric; Rogers, R. Curtis; Schwartz, Charles (1996). "Two Patients With Duplication of 17~11.2: The Reciprocal of the Smith–Magenis Syndrome Deletion?". American Journal of Medical Genetics. 63 (2): 373–377. doi:10.1002/(SICI)1096-8628(19960517)63:2<373::AID-AJMG9>3.0.CO;2-U. PMID 8725788.
Potocki, Lorraine; Chen, KS; Park, SS; Osterholm, DE; Withers, MA; Kimonis, V; Summers, AM; Meschino, WS; et al. (January 2000). "Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith–Magenis microdeletion". Nature Genetics. 24 (1): 84–87. doi:10.1038/71743. ISSN 1061-4036. PMID 10615134. S2CID 24400634.
Gu, W.; Lupski, James R. (2008). Schmidt, M. (ed.). "CNV and nervous system diseases – what's new?". Cytogenetic and Genome Research. 123 (1–4): 54–64. doi:10.1159/000184692. ISSN 1424-8581. PMC 2920183. PMID 19287139.
Molina, J; Carmona-Mora, P; Chrast, J; Krall, PM; Canales, CP; Lupski, JR; Reymond, A; Walz, K (15 August 2008). "Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome". Human Molecular Genetics. 17 (16): 2486–95. doi:10.1093/hmg/ddn148. PMID 18469339.
Treadwell-Deering, DE; Powell, MP; Potocki, L (2009). "Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2)". Journal of Developmental and Behavioral Pediatrics. 31 (2): 137–43. doi:10.1097/DBP.0b013e3181cda67e. PMID 20110824. S2CID 24233881.
Walz, Katherina; Paylor, R; Yan, J; Bi, W; Lupski, JR; et al. (November 2006). "Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)". Journal of Clinical Investigation. 116 (11): 3035–3041. doi:10.1172/JCI28953. ISSN 0021-9738. PMC 1590269. PMID 17024248.
Carmona-Mora, P; Molina, J; Encina, CA; Walz, K (June 2009). "Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes". Current Genomics. 10 (4): 259–68. doi:10.2174/138920209788488508. PMC 2709937. PMID 19949547.
Zhang, F; Potocki, L; Sampson, JB; Liu, P; Sanchez-Valle, A; Robbins-Furman, P; Navarro, AD; Wheeler, PG; Spence, JE; Brasington, CK; Withers, MA; Lupski, JR (12 March 2010). "Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS". American Journal of Human Genetics. 86 (3): 462–70. doi:10.1016/j.ajhg.2010.02.001. PMC 2833368. PMID 20188345.
Lupski, James R.; Stankiewicz, Pawel (December 2005). "Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes". PLOS Genetics. 1 (6): e49. doi:10.1371/journal.pgen.0010049. ISSN 1553-7390. PMC 1352149. PMID 16444292.
Carmona-Mora, P; Walz, K (December 2010). "Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior". Current Genomics. 11 (8): 607–17. doi:10.2174/138920210793360952. PMC 3078685. PMID 21629438.
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 (April 2007). "Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype". American Journal of Human Genetics. 80 (4): 633–49. doi:10.1086/512864. PMC 1852712. PMID 17357070.
Sanchez-Jimeno, Carolina; Bustamante-Aragonés, Ana; Infantes-Barbero, Fernando; Rodriguez De Alba, Marta; Ramos, Carmen; Trujillo-Tiebas, María Jose; Lorda-Sánchez, Isabel (December 2014). "Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA". Clinical Case Reports. 2 (6): 303–309. doi:10.1002/ccr3.117. PMC 4270714. PMID 25548634.

ncbi.nlm.nih.gov

Potocki, Lorraine; Bi, Weimin; Treadwell-Deering, Diane; Carvalho, Claudia M.B.; Eifert, Anna; Friedman, Ellen M.; Glaze, Daniel; Krull, Kevin; et al. (2007). "Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype". The American Journal of Human Genetics. 80 (4): 633–649. doi:10.1086/512864. ISSN 0002-9297. PMC 1852712. PMID 17357070.
Gu, W.; Lupski, James R. (2008). Schmidt, M. (ed.). "CNV and nervous system diseases – what's new?". Cytogenetic and Genome Research. 123 (1–4): 54–64. doi:10.1159/000184692. ISSN 1424-8581. PMC 2920183. PMID 19287139.
Talantseva, OI; Portnova, GV; Romanova, RS (2023). "Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review". Journal of Personalized Medicine. 13 (3). doi:10.3390/jpm13030439. PMC 10053863. S2CID 257271137.
Walz, Katherina; Paylor, R; Yan, J; Bi, W; Lupski, JR; et al. (November 2006). "Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)". Journal of Clinical Investigation. 116 (11): 3035–3041. doi:10.1172/JCI28953. ISSN 0021-9738. PMC 1590269. PMID 17024248.
Carmona-Mora, P; Molina, J; Encina, CA; Walz, K (June 2009). "Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes". Current Genomics. 10 (4): 259–68. doi:10.2174/138920209788488508. PMC 2709937. PMID 19949547.
Zhang, F; Potocki, L; Sampson, JB; Liu, P; Sanchez-Valle, A; Robbins-Furman, P; Navarro, AD; Wheeler, PG; Spence, JE; Brasington, CK; Withers, MA; Lupski, JR (12 March 2010). "Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS". American Journal of Human Genetics. 86 (3): 462–70. doi:10.1016/j.ajhg.2010.02.001. PMC 2833368. PMID 20188345.
Lupski, James R.; Stankiewicz, Pawel (December 2005). "Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes". PLOS Genetics. 1 (6): e49. doi:10.1371/journal.pgen.0010049. ISSN 1553-7390. PMC 1352149. PMID 16444292.
Carmona-Mora, P; Walz, K (December 2010). "Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior". Current Genomics. 11 (8): 607–17. doi:10.2174/138920210793360952. PMC 3078685. PMID 21629438.
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 (April 2007). "Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype". American Journal of Human Genetics. 80 (4): 633–49. doi:10.1086/512864. PMC 1852712. PMID 17357070.
Sanchez-Jimeno, Carolina; Bustamante-Aragonés, Ana; Infantes-Barbero, Fernando; Rodriguez De Alba, Marta; Ramos, Carmen; Trujillo-Tiebas, María Jose; Lorda-Sánchez, Isabel (December 2014). "Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA". Clinical Case Reports. 2 (6): 303–309. doi:10.1002/ccr3.117. PMC 4270714. PMID 25548634.

rarediseases.info.nih.gov

"Potocki–Lupski syndrome". Office of Rare Diseases Research's Genetic & Rare Diseases Information Center (GARD). National Institute for Health. Retrieved 25 August 2009.

orpha.net

"Trisomy 17p11.2 (Potocki–Lupski syndrome)". Orphanet. Paris, France: INSERM. Retrieved 25 August 2009.

semanticscholar.org

api.semanticscholar.org

Potocki, Lorraine; Chen, KS; Park, SS; Osterholm, DE; Withers, MA; Kimonis, V; Summers, AM; Meschino, WS; et al. (January 2000). "Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith–Magenis microdeletion". Nature Genetics. 24 (1): 84–87. doi:10.1038/71743. ISSN 1061-4036. PMID 10615134. S2CID 24400634.
Talantseva, OI; Portnova, GV; Romanova, RS (2023). "Does the Potocki–Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review". Journal of Personalized Medicine. 13 (3). doi:10.3390/jpm13030439. PMC 10053863. S2CID 257271137.
Treadwell-Deering, DE; Powell, MP; Potocki, L (2009). "Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2)". Journal of Developmental and Behavioral Pediatrics. 31 (2): 137–43. doi:10.1097/DBP.0b013e3181cda67e. PMID 20110824. S2CID 24233881.

web.archive.org

"About Potocki-Lupski syndrome". Houston, Texas: Baylor College of Medicine. 17 July 2009. Archived from the original on 6 June 2011. Retrieved 26 August 2009.

worldcat.org

search.worldcat.org

Potocki, Lorraine; Bi, Weimin; Treadwell-Deering, Diane; Carvalho, Claudia M.B.; Eifert, Anna; Friedman, Ellen M.; Glaze, Daniel; Krull, Kevin; et al. (2007). "Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype". The American Journal of Human Genetics. 80 (4): 633–649. doi:10.1086/512864. ISSN 0002-9297. PMC 1852712. PMID 17357070.
Potocki, Lorraine; Chen, KS; Park, SS; Osterholm, DE; Withers, MA; Kimonis, V; Summers, AM; Meschino, WS; et al. (January 2000). "Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith–Magenis microdeletion". Nature Genetics. 24 (1): 84–87. doi:10.1038/71743. ISSN 1061-4036. PMID 10615134. S2CID 24400634.
Gu, W.; Lupski, James R. (2008). Schmidt, M. (ed.). "CNV and nervous system diseases – what's new?". Cytogenetic and Genome Research. 123 (1–4): 54–64. doi:10.1159/000184692. ISSN 1424-8581. PMC 2920183. PMID 19287139.
Walz, Katherina; Paylor, R; Yan, J; Bi, W; Lupski, JR; et al. (November 2006). "Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)". Journal of Clinical Investigation. 116 (11): 3035–3041. doi:10.1172/JCI28953. ISSN 0021-9738. PMC 1590269. PMID 17024248.
Lupski, James R.; Stankiewicz, Pawel (December 2005). "Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes". PLOS Genetics. 1 (6): e49. doi:10.1371/journal.pgen.0010049. ISSN 1553-7390. PMC 1352149. PMID 16444292.