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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1965 1
1973 1
1980 1
1981 1
1983 4
1984 2
1985 5
1986 1
1987 2
1988 2
1989 3
1990 4
1991 2
1992 2
1993 4
1994 1
1996 2
1997 2
1998 3
1999 5
2000 3
2001 2
2002 3
2003 4
2004 1
2005 4
2007 2
2008 3
2009 2
2010 3
2011 4
2012 5
2013 5
2014 1
2015 3
2016 7
2017 5
2018 11
2019 7
2020 4
2021 7
2022 6
2023 5
2024 9

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142 results

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Page 1
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa E, et al. Clin Genet. 2023 Apr;103(4):383-391. doi: 10.1111/cge.14296. Epub 2023 Jan 25. Clin Genet. 2023. PMID: 36645289 Review.
Similarly, both EZH2 and EED also encode a subunit of PRC2 each and their pathogenic variants cause Weaver syndrome and Cohen-Gibson syndrome, respectively. Clinical manifestations of these syndromes significantly overlap, although their different prevalence rates h …
Similarly, both EZH2 and EED also encode a subunit of PRC2 each and their pathogenic variants cause Weaver syndrome and Cohen- …
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only....
We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rare …
[Weaver syndrome(Weaver-Smith syndrome)].
Matsuo M. Matsuo M. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):806-7. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11529033 Review. Japanese. No abstract available.
[Weaver syndrome].
Tsukahara M, Tsujino K. Tsukahara M, et al. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):258-9. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057220 Review. Japanese. No abstract available.
Weaver syndrome.
Cole TR, Dennis NR, Hughes HE. Cole TR, et al. J Med Genet. 1992 May;29(5):332-7. doi: 10.1136/jmg.29.5.332. J Med Genet. 1992. PMID: 1583661 Free PMC article. No abstract available.
A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.
Gao CW, Lin W, Riddle RC, Kushwaha P, Boukas L, Björnsson HT, Hansen KD, Fahrner JA. Gao CW, et al. JCI Insight. 2024 Jan 9;9(1):e173392. doi: 10.1172/jci.insight.173392. JCI Insight. 2024. PMID: 38015625 Free PMC article.
Weaver syndrome is characterized by striking overgrowth and advanced bone age, intellectual disability, and distinctive facies. We generated a mouse model for the most common Weaver syndrome missense variant, EZH2 p.R684C. Ezh2R684C/R684C mouse embryon …
Weaver syndrome is characterized by striking overgrowth and advanced bone age, intellectual disability, and distinctive facies …
Weaver syndrome and neuroblastoma.
Coulter D, Powell CM, Gold S. Coulter D, et al. J Pediatr Hematol Oncol. 2008 Oct;30(10):758-60. doi: 10.1097/MPH.0b013e3181758974. J Pediatr Hematol Oncol. 2008. PMID: 19011474
Overgrowth syndromes such as Beckwith-Wiedemann syndrome, Sotos syndrome, and Weaver syndrome have an increased risk of neoplasia. Two previous cases of neuroblastoma have been reported in children with Weaver syndrome. We present a third description o …
Overgrowth syndromes such as Beckwith-Wiedemann syndrome, Sotos syndrome, and Weaver syndrome have an increased risk of neopla …
Sotos syndrome.
Baujat G, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. Orphanet J Rare Dis. 2007. PMID: 17825104 Free PMC article. Review.
Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndro …
Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses …
Weaver syndrome: a case without early overgrowth and review of the literature.
Ramos-Arroyo MA, Weaver DD, Banks ER. Ramos-Arroyo MA, et al. Pediatrics. 1991 Dec;88(6):1106-11. Pediatrics. 1991. PMID: 1956726 Review.
A female child with Weaver syndrome is described. She did not show the excessive growth characteristic of this syndrome until after adequate caloric intake was achieved by feeding through a gastric feeding tube. ...
A female child with Weaver syndrome is described. She did not show the excessive growth characteristic of this syndrome until …
NFIX-Related Malan Syndrome.
Priolo M. Priolo M. 2024 Aug 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Aug 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 39083629 Free Books & Documents. Review.
Therefore, MALNS appears to be in the same low risk group as Sotos syndrome and Weaver syndrome with respect to a low likelihood of developing cancer. DIAGNOSIS/TESTING: The diagnosis of MALNS is established in a proband with suggestive findings and either a heteroz …
Therefore, MALNS appears to be in the same low risk group as Sotos syndrome and Weaver syndrome with respect to a low likeliho …
142 results

Searches related to "weaver syndrome"