These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
97 related articles for article (PubMed ID: 30569521)
1. Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. Caro-Contreras A; Alcántara-Ortigoza MA; Ahumada-Pérez JF; González-Del Angel A Am J Med Genet A; 2019 Jan; 179(1):118-122. PubMed ID: 30569521 [TBL] [Abstract][Full Text] [Related]
2. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the Balasubramanian M; Lord H; Levesque S; Guturu H; Thuriot F; Sillon G; Wenger AM; Sureka DL; Lester T; Johnson DS; Bowen J; Calhoun AR; Viskochil DH; ; Bejerano G; Bernstein JA; Chitayat D J Med Genet; 2017 Mar; 54(3):157-165. PubMed ID: 27738187 [TBL] [Abstract][Full Text] [Related]
3. Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. Suter AA; Santos-Simarro F; Toerring PM; Abad Perez A; Ramos-Mejia R; Heath KE; Huckstadt V; Parrón-Pajares M; Mensah MA; Hülsemann W; Holtgrewe M; Mundlos S; Kornak U; Bartsch O; Ehmke N Am J Med Genet A; 2020 Sep; 182(9):2068-2076. PubMed ID: 32592542 [TBL] [Abstract][Full Text] [Related]
4. Radiography of Chitayat syndrome in an infant male. Shin SH; StJoseph E; Mannan K; Khan K Radiol Case Rep; 2019 Apr; 14(4):448-451. PubMed ID: 30728880 [TBL] [Abstract][Full Text] [Related]
5. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. Dentici ML; Niceta M; Lepri FR; Mancini C; Priolo M; Bonnard AA; Cappelletti C; Leoni C; Ciolfi A; Pizzi S; Cordeddu V; Rossi C; Ferilli M; Mucciolo M; Colona VL; Fauth C; Bellini M; Biasucci G; Sinibaldi L; Briuglia S; Gazzin A; Carli D; Memo L; Trevisson E; Schiavariello C; Luca M; Novelli A; Michot C; Sweertvaegher A; Germanaud D; Scarano E; De Luca A; Zampino G; Zenker M; Mussa A; Dallapiccola B; Cavé H; Digilio MC; Tartaglia M Eur J Hum Genet; 2024 Aug; 32(8):954-963. PubMed ID: 38824261 [TBL] [Abstract][Full Text] [Related]
6. Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4. Moddemann MK; Kieslich M; Koenig R Am J Med Genet A; 2022 Oct; 188(10):2969-2975. PubMed ID: 35852485 [TBL] [Abstract][Full Text] [Related]
7. Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of Jobling R; Stavropoulos DJ; Marshall CR; Cytrynbaum C; Axford MM; Londero V; Moalem S; Orr J; Rossignol F; Lopes FD; Gauthier J; Alos N; Rupps R; McKinnon M; Adam S; Nowaczyk MJM; Walker S; Scherer SW; Nassif C; Hamdan FF; Deal CL; Soucy JF; Weksberg R; Macleod P; Michaud JL; Chitayat D J Med Genet; 2018 May; 55(5):316-321. PubMed ID: 29599419 [TBL] [Abstract][Full Text] [Related]
8. Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant. Yamada M; Funato M; Kondo G; Suzuki H; Uehara T; Takenouchi T; Sakamoto Y; Kosaki K Congenit Anom (Kyoto); 2021 Nov; 61(6):226-230. PubMed ID: 34184330 [TBL] [Abstract][Full Text] [Related]
9. A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report. Körberg I; Nowinski D; Bondeson ML; Melin M; Kölby L; Stattin EL BMC Med Genet; 2020 May; 21(1):90. PubMed ID: 32370745 [TBL] [Abstract][Full Text] [Related]
10. Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. Chaudhry A; Sabatini P; Han L; Ray PN; Forrest C; Bowdin S Am J Med Genet A; 2015 Nov; 167A(11):2544-7. PubMed ID: 26097063 [TBL] [Abstract][Full Text] [Related]
11. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. Leal GF; Nishimura G; Voss U; Bertola DR; Åström E; Svensson J; Yamamoto GL; Hammarsjö A; Horemuzova E; Papadiogannakis N; Iwarsson E; Grigelioniene G; Tham E J Bone Miner Res; 2018 Apr; 33(4):753-760. PubMed ID: 29178448 [TBL] [Abstract][Full Text] [Related]
12. Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome. Seo SH; Hwang SM; Ko JM; Ko JS; Hyun YJ; Cho SI; Park H; Kim SY; Seong MW; Park SS Clin Genet; 2015 Jul; 88(1):80-4. PubMed ID: 24917129 [TBL] [Abstract][Full Text] [Related]
13. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. Ejaz R; Lionel AC; Blaser S; Walker S; Scherer SW; Babul-Hirji R; Marshall CR; Stavropoulos DJ; Chitayat D Am J Med Genet A; 2017 Oct; 173(10):2725-2730. PubMed ID: 28840640 [TBL] [Abstract][Full Text] [Related]
14. Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. Smith C; Parboosingh JS; Boycott KM; Bönnemann CG; Mah JK; ; Lamont RE; Micheil Innes A; Bernier FP Clin Genet; 2017 Mar; 91(3):426-430. PubMed ID: 27684565 [TBL] [Abstract][Full Text] [Related]
15. Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. Zapata-Aldana E; Al-Mobarak SB; Karp N; Campbell C Am J Med Genet A; 2019 Jun; 179(6):1034-1041. PubMed ID: 30938034 [TBL] [Abstract][Full Text] [Related]
16. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Olson HE; Jean-Marçais N; Yang E; Heron D; Tatton-Brown K; van der Zwaag PA; Bijlsma EK; Krock BL; Backer E; Kamsteeg EJ; Sinnema M; Reijnders MRF; Bearden D; Begtrup A; Telegrafi A; Lunsing RJ; Burglen L; Lesca G; Cho MT; Smith LA; Sheidley BR; Moufawad El Achkar C; Pearl PL; Poduri A; Skraban CM; Tarpinian J; Nesbitt AI; Fransen van de Putte DE; Ruivenkamp CAL; Rump P; Chatron N; Sabatier I; De Bellescize J; Guibaud L; Sweetser DA; Waxler JL; Wierenga KJ; ; Donadieu J; Narayanan V; Ramsey KM; ; Nava C; Rivière JB; Vitobello A; Tran Mau-Them F; Philippe C; Bruel AL; Duffourd Y; Thomas L; Lelieveld SH; Schuurs-Hoeijmakers J; Brunner HG; Keren B; Thevenon J; Faivre L; Thomas G; Thauvin-Robinet C Am J Hum Genet; 2018 May; 102(5):995-1007. PubMed ID: 29656858 [TBL] [Abstract][Full Text] [Related]
17. Pectus deformities and their impact on pulmonary physiology. Koumbourlis AC Paediatr Respir Rev; 2015 Jan; 16(1):18-24. PubMed ID: 25464892 [TBL] [Abstract][Full Text] [Related]
18. Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder. Dai Z; Whitt Z; Mighion LC; Pontoglio A; Bean LJH; Colombo R; Hegde M Eur J Med Genet; 2017 Jun; 60(6):312-316. PubMed ID: 28377322 [TBL] [Abstract][Full Text] [Related]