BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 32659295)

  • 1. BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.
    Prasad M; Balci TB; Prasad C; Andrews JD; Lee R; Jurkiewicz MT; Napier MP; Colaiacovo S; Guillen Sacoto MJ; Karp N
    Eur J Med Genet; 2020 Sep; 63(9):104007. PubMed ID: 32659295
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report.
    Yu Y; Jia X; Yin H; Jiang H; Du Y; Yang F; Yang Z; Li H
    Mol Genet Genomic Med; 2023 Apr; 11(4):e2132. PubMed ID: 36683525
    [TBL] [Abstract][Full Text] [Related]  

  • 3. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
    Lessel D; Gehbauer C; Bramswig NC; Schluth-Bolard C; Venkataramanappa S; van Gassen KLI; Hempel M; Haack TB; Baresic A; Genetti CA; Funari MFA; Lessel I; Kuhlmann L; Simon R; Liu P; Denecke J; Kuechler A; de Kruijff I; Shoukier M; Lek M; Mullen T; Lüdecke HJ; Lerario AM; Kobbe R; Krieger T; Demeer B; Lebrun M; Keren B; Nava C; Buratti J; Afenjar A; Shinawi M; Guillen Sacoto MJ; Gauthier J; Hamdan FF; Laberge AM; Campeau PM; Louie RJ; Cathey SS; Prinz I; Jorge AAL; Terhal PA; Lenhard B; Wieczorek D; Strom TM; Agrawal PB; Britsch S; Tolosa E; Kubisch C
    Brain; 2018 Aug; 141(8):2299-2311. PubMed ID: 29985992
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.
    Qiao F; Wang C; Luo C; Wang Y; Shao B; Tan J; Hu P; Xu Z
    Mol Genet Genomic Med; 2019 Sep; 7(9):e897. PubMed ID: 31347296
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.
    Pande S; Mascarenhas S; Venkatraman A; Bhat V; Narayanan DL; Siddiqui S; Bielas S; Girisha KM; Shukla A
    Am J Med Genet A; 2023 Aug; 191(8):2175-2180. PubMed ID: 37337996
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
    Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [A case report of BCL11B mutation induced neurodevelopmental disorder and literature review].
    Yan S; Wei YS; Yang QY; Yang L; Zeng T; Tang XM; Zhao XD; An YF
    Zhonghua Er Ke Za Zhi; 2020 Mar; 58(3):223-227. PubMed ID: 32135595
    [No Abstract]   [Full Text] [Related]  

  • 8. Expanding the phenotypic spectrum associated with OPHN1 variants.
    Schwartz TS; Wojcik MH; Pelletier RC; Edward HL; Picker JD; Holm IA; Towne MC; Beggs AH; Agrawal PB
    Eur J Med Genet; 2019 Feb; 62(2):137-143. PubMed ID: 29960046
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
    Punwani D; Zhang Y; Yu J; Cowan MJ; Rana S; Kwan A; Adhikari AN; Lizama CO; Mendelsohn BA; Fahl SP; Chellappan A; Srinivasan R; Brenner SE; Wiest DL; Puck JM
    N Engl J Med; 2016 Dec; 375(22):2165-2176. PubMed ID: 27959755
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.
    Coursimault J; Lecoquierre F; Saugier-Veber P; Drouin-Garraud V; Lechevallier J; Boland A; Deleuze JF; Frebourg T; Nicolas G; Brehin AC
    Eur J Med Genet; 2021 Apr; 64(4):104166. PubMed ID: 33571694
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutant
    Yang S; Kang Q; Hou Y; Wang L; Li L; Liu S; Liao H; Cao Z; Yang L; Xiao Z
    Front Pediatr; 2020; 8():544894. PubMed ID: 33194885
    [No Abstract]   [Full Text] [Related]  

  • 12. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
    Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE
    Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Is MED13L-related intellectual disability a recognizable syndrome?
    Tørring PM; Larsen MJ; Brasch-Andersen C; Krogh LN; Kibæk M; Laulund L; Illum N; Dunkhase-Heinl U; Wiesener A; Popp B; Marangi G; Hjortshøj TD; Ek J; Vogel I; Becher N; Roos L; Zollino M; Fagerberg CR
    Eur J Med Genet; 2019 Feb; 62(2):129-136. PubMed ID: 29959045
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
    Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y
    Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
    Zarate YA; Kalsner L; Basinger A; Jones JR; Li C; Szybowska M; Xu ZL; Vergano S; Caffrey AR; Gonzalez CV; Dubbs H; Zackai E; Millan F; Telegrafi A; Baskin B; Person R; Fish JL; Everman DB
    Clin Genet; 2017 Oct; 92(4):423-429. PubMed ID: 28139846
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
    Stevens SJ; van Essen AJ; van Ravenswaaij CM; Elias AF; Haven JA; Lelieveld SH; Pfundt R; Nillesen WM; Yntema HG; van Roozendaal K; Stegmann AP; Gilissen C; Brunner HG
    Genome Med; 2016 Dec; 8(1):131. PubMed ID: 27964749
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.
    Tan L; Li Y; Liu F; Huang Y; Luo S; Zhao P; Gu W; Lin J; Zhou A; He X
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1582. PubMed ID: 33369188
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features.
    Zhang Y; Lin CM; Zheng XL; Abuduxikuer K
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1492. PubMed ID: 32926563
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).".
    Harrer P; Leppmeier V; Berger A; Demund S; Winkelmann J; Berweck S; Zech M
    Eur J Med Genet; 2022 Nov; 65(11):104635. PubMed ID: 36202297
    [No Abstract]   [Full Text] [Related]  

  • 20. MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay.
    Am J Med Genet A; 2020 Apr; 182(4):615-616. PubMed ID: 32153127
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.