196 related articles for article (PubMed ID: 30588754)
1. Schuurs-Hoeijmakers syndrome in two patients from Japan.
Hoshino Y; Enokizono T; Imagawa K; Tanaka R; Suzuki H; Fukushima H; Arai J; Sumazaki R; Uehara T; Takenouchi T; Kosaki K
Am J Med Genet A; 2019 Mar; 179(3):341-343. PubMed ID: 30588754
[TBL] [Abstract][Full Text] [Related]
2. Schuurs-Hoeijmakers syndrome in a patient from India.
Dutta AK
Am J Med Genet A; 2019 Apr; 179(4):522-524. PubMed ID: 30690871
[TBL] [Abstract][Full Text] [Related]
3. Schuurs-Hoeijmakers Syndrome (
Tenorio-Castaño J; Morte B; Nevado J; Martinez-Glez V; Santos-Simarro F; García-Miñaúr S; Palomares-Bralo M; Pacio-Míguez M; Gómez B; Arias P; Alcochea A; Carrión J; Arias P; Almoguera B; López-Grondona F; Lorda-Sanchez I; Galán-Gómez E; Valenzuela I; Méndez Perez MP; Cuscó I; Barros F; Pié J; Ramos S; Ramos FJ; Kuechler A; Tizzano E; Ayuso C; Kaiser FJ; Pérez-Jurado LA; Carracedo Á; The ENoD-Ciberer Consortium ; The Side Consortium ; Lapunzina P
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34068396
[TBL] [Abstract][Full Text] [Related]
4. Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.
Abbassi M; Bourmtane A; Sayel H; El Mouhi H; Jalte M; Elasri YA; Askander O; El Fahime E; Bouguenouch L
Mol Biol Rep; 2023 Nov; 50(11):9121-9128. PubMed ID: 37747683
[TBL] [Abstract][Full Text] [Related]
5. Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.
Seto MT; Bertoli-Avella AM; Cheung KW; Chan KY; Yeung KS; Fung JL; Beetz C; Bauer P; Luk HM; Lo IF; Lee CP; Chung BH; Kan AS
Am J Med Genet A; 2021 Feb; 185(2):384-389. PubMed ID: 33166031
[TBL] [Abstract][Full Text] [Related]
6. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y; Yoshihashi H; Uehara T; Miyama S; Kosaki K; Takenouchi T
Am J Med Genet A; 2021 Mar; 185(3):884-888. PubMed ID: 33369122
[TBL] [Abstract][Full Text] [Related]
7. PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome.
Ohkawa T; Nishimura A; Kosaki K; Aoki-Nogami Y; Tomizawa D; Kashimada K; Morio T; Kato M; Mizutani S; Takagi M
J Hum Genet; 2022 Jan; 67(1):51-54. PubMed ID: 34341476
[TBL] [Abstract][Full Text] [Related]
8. A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report.
Lucena PH; Nonaka C; Armani-Franceschi G; Carneiro P; Sales H; Lucena M; Bandeira ID; Solano B; Lucena R
Cureus; 2022 Oct; 14(10):e30486. PubMed ID: 36415352
[TBL] [Abstract][Full Text] [Related]
9. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
van der Donk R; Jansen S; Schuurs-Hoeijmakers JHM; Koolen DA; Goltstein LCMJ; Hoischen A; Brunner HG; Kemmeren P; Nellåker C; Vissers LELM; de Vries BBA; Hehir-Kwa JY
Genet Med; 2019 Aug; 21(8):1719-1725. PubMed ID: 30568311
[TBL] [Abstract][Full Text] [Related]
10. Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
Arnedo M; Ascaso Á; Latorre-Pellicer A; Lucia-Campos C; Gil-Salvador M; Ayerza-Casas A; Pablo MJ; Gómez-Puertas P; Ramos FJ; Bueno-Lozano G; Pié J; Puisac B
Int J Mol Sci; 2022 Aug; 23(17):. PubMed ID: 36077045
[TBL] [Abstract][Full Text] [Related]
11. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.
Miyake N; Ozasa S; Mabe H; Kimura S; Shiina M; Imagawa E; Miyatake S; Nakashima M; Mizuguchi T; Takata A; Ogata K; Matsumoto N
Clin Genet; 2018 Apr; 93(4):929-930. PubMed ID: 28975623
[TBL] [Abstract][Full Text] [Related]
12. Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Schuurs-Hoeijmakers JH; Landsverk ML; Foulds N; Kukolich MK; Gavrilova RH; Greville-Heygate S; Hanson-Kahn A; Bernstein JA; Glass J; Chitayat D; Burrow TA; Husami A; Collins K; Wusik K; van der Aa N; Kooy F; Brown KT; Gadzicki D; Kini U; Alvarez S; Fernández-Jaén A; McGehee F; Selby K; Tarailo-Graovac M; Van Allen M; van Karnebeek CD; Stavropoulos DJ; Marshall CR; Merico D; Gregor A; Zweier C; Hopkin RJ; Chu YW; Chung BH; de Vries BB; Devriendt K; Hurles ME; Brunner HG;
Am J Med Genet A; 2016 Mar; 170(3):670-5. PubMed ID: 26842493
[TBL] [Abstract][Full Text] [Related]
13. PACS1-Neurodevelopmental disorder: clinical features and trial readiness.
Van Nuland A; Reddy T; Quassem F; Vassalli JD; Berg AT
Orphanet J Rare Dis; 2021 Sep; 16(1):386. PubMed ID: 34517877
[TBL] [Abstract][Full Text] [Related]
14. Ophthalmological manifestations of the Schuurs-Hoeijmakers syndrome: a case report.
Silva MWBE; Martins A; Medeiros AL; Vasconcelos A; Ventura CV
Arq Bras Oftalmol; 2022; 85(1):85-87. PubMed ID: 34468556
[TBL] [Abstract][Full Text] [Related]
15. A Novel Multi-Exon Deletion of
Liu Y; Ding H; Yan T; Liu L; Yu L; Huang Y; Li F; Zeng Y; Huang W; Zhang Y; Yin A
Front Genet; 2021; 12():690216. PubMed ID: 34373684
[No Abstract] [Full Text] [Related]
16. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.
Gripp KW; Baker L; Telegrafi A; Monaghan KG
Am J Med Genet A; 2016 Jul; 170(7):1754-62. PubMed ID: 27112773
[TBL] [Abstract][Full Text] [Related]
17. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
Mattioli F; Piton A; Gérard B; Superti-Furga A; Mandel JL; Unger S
Am J Med Genet A; 2016 Jun; 170(6):1626-9. PubMed ID: 27061120
[TBL] [Abstract][Full Text] [Related]
18. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Cleaver R; Berg J; Craft E; Foster A; Gibbons RJ; Hobson E; Lachlan K; Naik S; Sampson JR; Sharif S; Smithson S; ; Parker MJ; Tatton-Brown K
Am J Med Genet A; 2019 Mar; 179(3):344-349. PubMed ID: 30637921
[TBL] [Abstract][Full Text] [Related]
19. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
Schuurs-Hoeijmakers JH; Oh EC; Vissers LE; Swinkels ME; Gilissen C; Willemsen MA; Holvoet M; Steehouwer M; Veltman JA; de Vries BB; van Bokhoven H; de Brouwer AP; Katsanis N; Devriendt K; Brunner HG
Am J Hum Genet; 2012 Dec; 91(6):1122-7. PubMed ID: 23159249
[TBL] [Abstract][Full Text] [Related]
20. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.
Gadzicki D; Döcker D; Schubach M; Menzel M; Schmorl B; Stellmer F; Biskup S; Bartholdi D
Clin Genet; 2015 Sep; 88(3):300-2. PubMed ID: 25522177
[No Abstract] [Full Text] [Related]
[Next] [New Search]