187 related articles for article (PubMed ID: 38827639)
1. Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.
Grens K; Church KM; Diehl E; Hunter SE; Tatton-Brown K; Kiernan J; Delagrammatikas CG
Ther Adv Rare Dis; 2024; 5():26330040241254123. PubMed ID: 38827639
[TBL] [Abstract][Full Text] [Related]
2. Skeletal abnormalities in mice with Dnmt3a missense mutations.
Bell-Hensley A; Beard DC; Feeney K; Zheng H; Jiang Y; Zhang X; Liu J; Gabel H; McAlinden A
Bone; 2024 Jun; 183():117085. PubMed ID: 38522809
[TBL] [Abstract][Full Text] [Related]
3. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K; Loveday C; Yost S; Clarke M; Ramsay E; Zachariou A; Elliott A; Wylie H; Ardissone A; Rittinger O; Stewart F; Temple IK; Cole T; ; Mahamdallie S; Seal S; Ruark E; Rahman N
Am J Hum Genet; 2017 May; 100(5):725-736. PubMed ID: 28475857
[TBL] [Abstract][Full Text] [Related]
4. An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Yüksel Ülker A; Uludağ Alkaya D; Çağlayan AO; Usluer E; Aykut A; Aslanger A; Vural M; Tüysüz B
Am J Med Genet A; 2023 Jun; 191(6):1530-1545. PubMed ID: 36919607
[TBL] [Abstract][Full Text] [Related]
5. Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
Moirangthem A; Mandal K; Saxena D; Srivastava P; Gambhir PS; Agrawal N; Shambhavi A; Nampoothiri S; Phadke SR
Am J Med Genet A; 2021 Aug; 185(8):2345-2355. PubMed ID: 33942996
[TBL] [Abstract][Full Text] [Related]
6. Epigenetic Causes of Overgrowth Syndromes.
Lui JC; Baron J
J Clin Endocrinol Metab; 2024 Jan; 109(2):312-320. PubMed ID: 37450557
[TBL] [Abstract][Full Text] [Related]
7. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J; Alarcón P; Arias P; Dapía I; García-Miñaur S; Palomares Bralo M; Campistol J; Climent S; Valenzuela I; Ramos S; Monseny AM; Grondona FL; Botet J; Serrano M; Solís M; Santos-Simarro F; Álvarez S; Teixidó-Tura G; Fernández Jaén A; Gordo G; Bardón Rivera MB; Nevado J; Hernández A; Cigudosa JC; Ruiz-Pérez VL; Tizzano EF; ; Lapunzina P
Eur J Hum Genet; 2020 Apr; 28(4):469-479. PubMed ID: 31685998
[TBL] [Abstract][Full Text] [Related]
8. First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln).
Lee CG; Jang JH; Seo JY
Ann Pediatr Endocrinol Metab; 2019 Dec; 24(4):253-256. PubMed ID: 31905446
[TBL] [Abstract][Full Text] [Related]
9. PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.
Cyrus S; Burkardt D; Weaver DD; Gibson WT
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):519-531. PubMed ID: 31724824
[TBL] [Abstract][Full Text] [Related]
10. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with
Tatton-Brown K; Zachariou A; Loveday C; Renwick A; Mahamdallie S; Aksglaede L; Baralle D; Barge-Schaapveld D; Blyth M; Bouma M; Breckpot J; Crabb B; Dabir T; Cormier-Daire V; Fauth C; Fisher R; Gener B; Goudie D; Homfray T; Hunter M; Jorgensen A; Kant SG; Kirally-Borri C; Koolen D; Kumar A; Labilloy A; Lees M; Marcelis C; Mercer C; Mignot C; Miller K; Neas K; Newbury-Ecob R; Pilz DT; Posmyk R; Prada C; Ramsey K; Randolph LM; Selicorni A; Shears D; Suri M; Temple IK; Turnpenny P; Val Maldergem L; Varghese V; Veenstra-Knol HE; Yachelevich N; Yates L; ; ; Rahman N
Wellcome Open Res; 2018; 3():46. PubMed ID: 29900417
[TBL] [Abstract][Full Text] [Related]
11. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A; Zachariou A; Loveday C; Ashraf T; Blair E; Clayton-Smith J; Dorkins H; Fryer A; Gener B; Goudie D; Henderson A; Irving M; Joss S; Keeley V; Lahiri N; Lynch SA; Mansour S; McCann E; Morton J; Motton N; Murray A; Riches K; Shears D; Stark Z; Thompson E; Vogt J; Wright M; Cole T; Tatton-Brown K
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):502-508. PubMed ID: 31479583
[TBL] [Abstract][Full Text] [Related]
12. 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.
Dong HY; Zeng H; Hu YQ; Xie L; Wang J; Wang XY; Yang YF; Tan ZP
Mol Cytogenet; 2016; 9():71. PubMed ID: 27688808
[TBL] [Abstract][Full Text] [Related]
13. Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
Okamoto N; Toribe Y; Shimojima K; Yamamoto T
Am J Med Genet A; 2016 May; 170A(5):1339-42. PubMed ID: 26866722
[TBL] [Abstract][Full Text] [Related]
14. Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Ostrowski PJ; Zachariou A; Loveday C; Baralle D; Blair E; Douzgou S; Field M; Foster A; Kyle C; Lachlan K; Mansour S; Naik S; Rea G; Smithson S; Sznajer Y; Thompson E; Cole T; Tatton-Brown K
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):638-643. PubMed ID: 31714006
[TBL] [Abstract][Full Text] [Related]
15. Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.
Okamoto N; Yoshida S; Ogitani A; Etani Y; Yanagi K; Kaname T
Am J Med Genet A; 2024 May; ():e63726. PubMed ID: 38814056
[TBL] [Abstract][Full Text] [Related]
16. Carpal tunnel syndrome in paediatric patients: A novel association with Kosaki overgrowth syndrome.
Walker H; Foster A; Cole T; Jester A
JPRAS Open; 2020 Sep; 25():83-87. PubMed ID: 32904243
[TBL] [Abstract][Full Text] [Related]
17. Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder.
Yokoi T; Enomoto Y; Naruto T; Kurosawa K; Higurashi N
Hum Genome Var; 2020; 7():15. PubMed ID: 32435502
[TBL] [Abstract][Full Text] [Related]
18. Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective.
Prades S; Compton A; Carroll JB
Ther Adv Rare Dis; 2024; 5():26330040241249189. PubMed ID: 38716233
[TBL] [Abstract][Full Text] [Related]
19. Approach to the Diagnosis of Overgrowth Syndromes.
Suri M
Indian J Pediatr; 2016 Oct; 83(10):1175-87. PubMed ID: 26680784
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]