258 related articles for article (PubMed ID: 26187867)
21. KBG syndrome presenting with brachydactyly type E.
Libianto R; Wu KH; Devery S; Eisman JA; Center JR
Bone; 2019 Jun; 123():18-22. PubMed ID: 30877071
[TBL] [Abstract][Full Text] [Related]
22. Epilepsy in KBG Syndrome: Report of Additional Cases.
Whitney R; Komar M; Yoganathan S; Costain G; Jain P
Pediatr Neurol; 2024 Feb; 151():138-142. PubMed ID: 38157719
[TBL] [Abstract][Full Text] [Related]
23. [Audiological phenotypes of KBG syndrome: a case report and literatures review].
Su W; Xia Y; Xia C; Liu Y
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2022 Oct; 36(10):797-801. PubMed ID: 36217662
[No Abstract] [Full Text] [Related]
24. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome.
Sacharow S; Li D; Fan YS; Tekin M
Am J Med Genet A; 2012 Mar; 158A(3):547-52. PubMed ID: 22307766
[TBL] [Abstract][Full Text] [Related]
25. Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.
Zhang T; Yang Y; Yin X; Wang X; Ni J; Dong Z; Li C; Lu W
Am J Med Genet A; 2021 Mar; 185(3):710-718. PubMed ID: 33354850
[TBL] [Abstract][Full Text] [Related]
26. KBG syndrome.
Morel Swols D; Foster J; Tekin M
Orphanet J Rare Dis; 2017 Dec; 12(1):183. PubMed ID: 29258554
[TBL] [Abstract][Full Text] [Related]
27. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F; Caraffi SG; Contrò G; Valeri L; Napoli M; Carboni G; Seth A; Zuntini R; Coccia E; Astrea G; Bisgaard AM; Ivanovski I; Maitz S; Brischoux-Boucher E; Carter MT; Dentici ML; Devriendt K; Bellini M; Digilio MC; Doja A; Dyment DA; Farholt S; Ferreira CR; Wolfe LA; Gahl WA; Gnazzo M; Goel H; Grønborg SW; Hammer T; Iughetti L; Kleefstra T; Koolen DA; Lepri FR; Lemire G; Louro P; McCullagh G; Madeo SF; Milone A; Milone R; Nielsen JEK; Novelli A; Ockeloen CW; Pascarella R; Pippucci T; Ricca I; Robertson SP; Sawyer S; Falkenberg Smeland M; Stegmann S; Stumpel CT; Goel A; Taylor JM; Barbuti D; Soresina A; Bedeschi MF; Battini R; Cavalli A; Fusco C; Iascone M; Van Maldergem L; Venkateswaran S; Zuffardi O; Vergano S; Garavelli L; Bayat A
J Med Genet; 2023 Nov; 60(12):1224-1234. PubMed ID: 37586838
[TBL] [Abstract][Full Text] [Related]
28. Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.
Reynaert N; Ockeloen CW; Sävendahl L; Beckers D; Devriendt K; Kleefstra T; Carels CE; Grigelioniene G; Nordgren A; Francois I; de Zegher F; Casteels K
Horm Res Paediatr; 2015; 83(5):361-4. PubMed ID: 25833229
[TBL] [Abstract][Full Text] [Related]
29. A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
Kaname T; Yanagi K
J Hum Genet; 2017 Aug; 62(8):739-740. PubMed ID: 28566769
[No Abstract] [Full Text] [Related]
30. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
Tunovic S; Barkovich J; Sherr EH; Slavotinek AM
Am J Med Genet A; 2014 Jul; 164A(7):1744-9. PubMed ID: 24838796
[TBL] [Abstract][Full Text] [Related]
31. KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.
Skjei KL; Martin MM; Slavotinek AM
Am J Med Genet A; 2007 Feb; 143A(3):292-300. PubMed ID: 17230487
[TBL] [Abstract][Full Text] [Related]
32. KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
Choi Y; Choi J; Do H; Hwang S; Seo GH; Choi IH; Keum C; Choi JH; Kang M; Kim GH; Yoo HW; Lee BH
Mol Genet Genomic Med; 2023 Apr; 11(4):e2127. PubMed ID: 36564961
[TBL] [Abstract][Full Text] [Related]
33. Two case reports of KBG syndrome with Dandy-Walker variant.
Tago T; Suzuki T; Kashimada A; Takagi M; Mizuno T
Pediatr Int; 2021 Dec; 63(12):1530-1532. PubMed ID: 34418234
[No Abstract] [Full Text] [Related]
34. Epilepsy in KBG syndrome.
Auconi M; Serino D; Digilio MC; Gnazzo M; Conti M; Vigevano F; Fusco L
Dev Med Child Neurol; 2023 May; 65(5):712-720. PubMed ID: 36196002
[TBL] [Abstract][Full Text] [Related]
35. Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.
Tamhankar PM; Vasudevan L; Bansal V; Menon SR; Gawde HM; D'Souza A; Babu S; Kondurkar S; Adhia R; Das DK
Eur J Med Genet; 2015 Aug; 58(8):392-9. PubMed ID: 26117586
[TBL] [Abstract][Full Text] [Related]
36. A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
Chen J; Xia Z; Zhou Y; Ma X; Wang X; Guo Q
BMC Med Genomics; 2021 Mar; 14(1):68. PubMed ID: 33653342
[TBL] [Abstract][Full Text] [Related]
37. A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion.
Kim HJ; Cho E; Park JB; Im WY; Kim HJ
Eur J Med Genet; 2015 Feb; 58(2):86-94. PubMed ID: 25464108
[TBL] [Abstract][Full Text] [Related]
38. Ear lobe creases: A novel phenotypic feature in KBG syndrome.
Ashraf T; Harrison M; Irving M
Am J Med Genet A; 2022 May; 188(5):1618-1622. PubMed ID: 35175682
[No Abstract] [Full Text] [Related]
39. Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.
Nardello R; Mangano GD; Antona V; Fontana A; Striano P; Giorgio E; Brusco A; Mangano S; Salpietro V
Seizure; 2021 Feb; 85():151-154. PubMed ID: 33476899
[No Abstract] [Full Text] [Related]
40. Possible Gynecologic Manifestations of Keishi-Bukuryo-Gan Syndrome: A Case Report.
Lawton JA; Tomlin KV
J Pediatr Adolesc Gynecol; 2023 Aug; 36(4):428-429. PubMed ID: 36754204
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]