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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

244 related articles for article (PubMed ID: 34050706)

  • 1. Clinical spectrum of individuals with de novo EBF3 variants or deletions.
    Nishi E; Uehara T; Yanagi K; Hasegawa Y; Ueda K; Kaname T; Yamamoto T; Kosaki K; Okamoto N
    Am J Med Genet A; 2021 Oct; 185(10):2913-2921. PubMed ID: 34050706
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo variants in
    Tanaka AJ; Cho MT; Willaert R; Retterer K; Zarate YA; Bosanko K; Stefans V; Oishi K; Williamson A; Wilson GN; Basinger A; Barbaro-Dieber T; Ortega L; Sorrentino S; Gabriel MK; Anderson IJ; Sacoto MJG; Schnur RE; Chung WK
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 29162653
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Urologic manifestations of hypotonia, ataxia, and delayed development syndrome (HADDS), a rare neurodevelopmental disorder.
    Batie SF; Ashbrook CQ; Coco CT; Baker LA; Stanasel I
    J Pediatr Urol; 2023 Dec; 19(6):751.e1-751.e9. PubMed ID: 37718233
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Analysis of clinical features and EBF3 gene variant in a child with hypotonia, ataxia and developmental delay].
    Cong Y; Wang D; Wang H; Xu X; Wu K
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1270-1274. PubMed ID: 36317217
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
    Padhi EM; Hayeck TJ; Cheng Z; Chatterjee S; Mannion BJ; Byrska-Bishop M; Willems M; Pinson L; Redon S; Benech C; Uguen K; Audebert-Bellanger S; Le Marechal C; Férec C; Efthymiou S; Rahman F; Maqbool S; Maroofian R; Houlden H; Musunuri R; Narzisi G; Abhyankar A; Hunter RD; Akiyama J; Fries LE; Ng JK; Mehinovic E; Stong N; Allen AS; Dickel DE; Bernier RA; Gorkin DU; Pennacchio LA; Zody MC; Turner TN
    Hum Genomics; 2021 Jul; 15(1):44. PubMed ID: 34256850
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
    Chao HT; Davids M; Burke E; Pappas JG; Rosenfeld JA; McCarty AJ; Davis T; Wolfe L; Toro C; Tifft C; Xia F; Stong N; Johnson TK; Warr CG; ; Yamamoto S; Adams DR; Markello TC; Gahl WA; Bellen HJ; Wangler MF; Malicdan MCV
    Am J Hum Genet; 2017 Jan; 100(1):128-137. PubMed ID: 28017372
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
    Harms FL; Girisha KM; Hardigan AA; Kortüm F; Shukla A; Alawi M; Dalal A; Brady L; Tarnopolsky M; Bird LM; Ceulemans S; Bebin M; Bowling KM; Hiatt SM; Lose EJ; Primiano M; Chung WK; Juusola J; Akdemir ZC; Bainbridge M; Charng WL; Drummond-Borg M; Eldomery MK; El-Hattab AW; Saleh MAM; Bézieau S; Cogné B; Isidor B; Küry S; Lupski JR; Myers RM; Cooper GM; Kutsche K
    Am J Hum Genet; 2017 Jan; 100(1):117-127. PubMed ID: 28017373
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Novel de novo variant in
    Blackburn PR; Barnett SS; Zimmermann MT; Cousin MA; Kaiwar C; Pinto E Vairo F; Niu Z; Ferber MJ; Urrutia RA; Selcen D; Klee EW; Pichurin PN
    Cold Spring Harb Mol Case Stud; 2017 May; 3(3):a001743. PubMed ID: 28487885
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
    Chilton I; Okur V; Vitiello G; Selicorni A; Mariani M; Goldenberg A; Husson T; Campion D; Lichtenbelt KD; van Gassen K; Steinraths M; Rice J; Roeder ER; Littlejohn RO; Srour M; Sebire G; Accogli A; Héron D; Heide S; Nava C; Depienne C; Larson A; Niyazov D; Azage M; Hoganson G; Burton J; Rush ET; Jenkins JL; Saunders CJ; Thiffault I; Alaimo JT; Fleischer J; Groepper D; Gripp KW; Chung WK
    Am J Med Genet A; 2020 May; 182(5):962-973. PubMed ID: 32031333
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
    Sleven H; Welsh SJ; Yu J; Churchill MEA; Wright CF; Henderson A; Horvath R; Rankin J; Vogt J; Magee A; McConnell V; Green A; King MD; Cox H; Armstrong L; Lehman A; Nelson TN; ; ; Williams J; Clouston P; Hagman J; Németh AH
    Am J Hum Genet; 2017 Jan; 100(1):138-150. PubMed ID: 28017370
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.
    Ignatius E; Puosi R; Palomäki M; Forsbom N; Pohjanpelto M; Alitalo T; Anttonen AK; Avela K; Haataja L; Carroll CJ; Lönnqvist T; Isohanni P
    Eur J Paediatr Neurol; 2022 Mar; 37():1-7. PubMed ID: 34999443
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Novel
    Huang Y; Mei L; Wang Y; Ye H; Ma X; Zhang J; Cai M; Li P; Ge Y; Zhou Y
    Front Genet; 2021; 12():676832. PubMed ID: 34367240
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
    Schirwani S; Albaba S; Carere DA; Guillen Sacoto MJ; Milan Zamora F; Si Y; Rabin R; Pappas J; Renaud DL; Hauser N; Reid E; Blanchet P; Foulds N; Dixit A; Fisher R; Armstrong R; Isidor B; Cogne B; Schrier Vergano S; Demirdas S; Dykzeul N; Cohen JS; Grand K; Morel D; Slavotinek A; Albassam HF; Naik S; Dean J; Ragge N; Costa C; Tedesco MG; Harrison RE; Bouman A; Palen E; Challman TD; Willemsen MH; Vogt J; Cunniff C; Bergstrom K; Walia JS; Bruel AL; Kini U; Alkuraya FS; Slegesky V; Meeks N; Girotto P; Johnson D; ; Newbury-Ecob R; Ockeloen CW; Prontera P; Lynch SA; Li D; Graham JM; Pierson TM; Balasubramanian M
    Am J Med Genet A; 2021 Nov; 185(11):3446-3458. PubMed ID: 34436830
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
    Wang Q; Huang X; Liu Y; Peng Q; Zhang Y; Liu J; Yuan H
    Eur J Med Genet; 2020 Jan; 63(1):103611. PubMed ID: 30615951
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.
    Powis Z; Petrik I; Cohen JS; Escolar D; Burton J; van Ravenswaaij-Arts CMA; Sival DA; Stegmann APA; Kleefstra T; Pfundt R; Chikarmane R; Begtrup A; Huether R; Tang S; Shinde DN
    Clin Genet; 2018 May; 93(5):1030-1038. PubMed ID: 29251763
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Whole Gene Deletion of
    Lopes F; Soares G; Gonçalves-Rocha M; Pinto-Basto J; Maciel P
    Front Genet; 2017; 8():143. PubMed ID: 29062322
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
    Berko ER; Cho MT; Eng C; Shao Y; Sweetser DA; Waxler J; Robin NH; Brewer F; Donkervoort S; Mohassel P; Bönnemann CG; Bialer M; Moore C; Wolfe LA; Tifft CJ; Shen Y; Retterer K; Millan F; Chung WK
    J Med Genet; 2017 Feb; 54(2):84-86. PubMed ID: 27389779
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deletion of
    Singh R; Cohen ASA; Poulton C; Hjortshøj TD; Akahira-Azuma M; Mendiratta G; Khan WA; Azmanov DN; Woodward KJ; Kirchhoff M; Shi L; Edelmann L; Baynam G; Scott SA; Jabs EW
    Cold Spring Harb Mol Case Stud; 2021 Jun; 7(3):. PubMed ID: 34117072
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 13.