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 *

161 related articles for article (PubMed ID: 33773094)

  • 1. Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping.
    Porras AR; Summar M; Linguraru MG
    Mol Genet Genomic Med; 2021 May; 9(5):e1636. PubMed ID: 33773094
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt.
    Čaplovičová M; Moslerová V; Dupej J; Macek M; Zemková D; Hoffmannová E; Havlovicová M; Velemínská J
    Am J Med Genet A; 2018 Dec; 176(12):2604-2613. PubMed ID: 30380201
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.
    Porras AR; Rosenbaum K; Tor-Diez C; Summar M; Linguraru MG
    Lancet Digit Health; 2021 Oct; 3(10):e635-e643. PubMed ID: 34481768
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Williams-Beuren syndrome in diverse populations.
    Kruszka P; Porras AR; de Souza DH; Moresco A; Huckstadt V; Gill AD; Boyle AP; Hu T; Addissie YA; Mok GTK; Tekendo-Ngongang C; Fieggen K; Prijoles EJ; Tanpaiboon P; Honey E; Luk HM; Lo IFM; Thong MK; Muthukumarasamy P; Jones KL; Belhassan K; Ouldim K; El Bouchikhi I; Bouguenouch L; Shukla A; Girisha KM; Sirisena ND; Dissanayake VHW; Paththinige CS; Mishra R; Kisling MS; Ferreira CR; de Herreros MB; Lee NC; Jamuar SS; Lai A; Tan ES; Ying Lim J; Wen-Min CB; Gupta N; Lotz-Esquivel S; Badilla-Porras R; Hussen DF; El Ruby MO; Ashaat EA; Patil SJ; Dowsett L; Eaton A; Innes AM; Shotelersuk V; Badoe Ë; Wonkam A; Obregon MG; Chung BHY; Trubnykova M; La Serna J; Gallardo Jugo BE; Chávez Pastor M; Abarca Barriga HH; Megarbane A; Kozel BA; van Haelst MM; Stevenson RE; Summar M; Adeyemo AA; Morris CA; Moretti-Ferreira D; Linguraru MG; Muenke M
    Am J Med Genet A; 2018 May; 176(5):1128-1136. PubMed ID: 29681090
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Noonan and Williams syndromes--basic differential diagnosis.
    Bzdúch V
    Clin Pediatr (Phila); 1995 Nov; 34(11):622-3. PubMed ID: 8565398
    [No Abstract]   [Full Text] [Related]  

  • 6. The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
    Marwaha A; Chitayat D; Meyn MS; Mendoza-Londono R; Chad L
    Am J Med Genet A; 2021 Apr; 185(4):1151-1158. PubMed ID: 33554457
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Differential diagnosis of the Williams and the Noonan syndromes.
    Preus M
    Clin Genet; 1984 May; 25(5):429-34. PubMed ID: 6723103
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India.
    Patil SJ; Madhusudhan BG; Shah S; Suresh PV
    Am J Med Genet A; 2012 Jul; 158A(7):1729-34. PubMed ID: 22628065
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical expression of familial Williams-Beuren syndrome in a Turkish family.
    Parlak M; Nur BG; Mıhçı E; Durmaz E; Karaüzüm SB; Akcurin S; Bircan İ
    J Pediatr Endocrinol Metab; 2014 Jan; 27(1-2):153-8. PubMed ID: 24057591
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Turner syndrome in diverse populations.
    Kruszka P; Addissie YA; Tekendo-Ngongang C; Jones KL; Savage SK; Gupta N; Sirisena ND; Dissanayake VHW; Paththinige CS; Aravena T; Nampoothiri S; Yesodharan D; Girisha KM; Patil SJ; Jamuar SS; Goh JC; Utari A; Sihombing N; Mishra R; Chitrakar NS; Iriele BC; Lulseged E; Megarbane A; Uwineza A; Oyenusi EE; Olopade OB; Fasanmade OA; Duenas-Roque MM; Thong MK; Tung JYL; Mok GTK; Fleischer N; Rwegerera GM; de Herreros MB; Watts J; Fieggen K; Huckstadt V; Moresco A; Obregon MG; Hussen DF; Ashaat NA; Ashaat EA; Chung BHY; Badoe E; Faradz SMH; El Ruby MO; Shotelersuk V; Wonkam A; Ekure EN; Phadke SR; Richieri-Costa A; Muenke M
    Am J Med Genet A; 2020 Feb; 182(2):303-313. PubMed ID: 31854143
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.
    Allanson JE
    Am J Med Genet A; 2016 Oct; 170(10):2570-7. PubMed ID: 27155212
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Noonan syndrome and its related disorders.
    Fukushima Y
    Acta Paediatr Jpn; 1996 Feb; 38(1):102-4. PubMed ID: 8992851
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.
    Yau EK; Lo IF; Lam ST
    Hong Kong Med J; 2004 Feb; 10(1):22-7. PubMed ID: 14967851
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Echocardiographic findings in patients with Williams-Beuren syndrome.
    Scheiber D; Fekete G; Urban Z; Tarjan I; Balaton G; Kosa L; Nagy K; Vajo Z
    Wien Klin Wochenschr; 2006 Sep; 118(17-18):538-42. PubMed ID: 17009066
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Syndromes 5. Williams-Beuren Syndrome].
    Hoff M; van Hagen JM; Baart JA; Vissink A
    Ned Tijdschr Tandheelkd; 1998 Oct; 105(10):368-9. PubMed ID: 11928452
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Recurrent achalasia in a child with Williams-Beuren syndrome.
    Pereza N; Barbarić I; Ostojić S; Cace N; Kapović M
    Coll Antropol; 2011 Sep; 35(3):941-4. PubMed ID: 22053584
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.
    Todorova MG; Grieshaber MC; Cámara RJ; Miny P; Palmowski-Wolfe AM
    BMC Ophthalmol; 2014 May; 14():70. PubMed ID: 24885071
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Williams-Beuren syndrome (Williams syndrome). Case report].
    Miklós G; Fekete G; Haltrich I; Tóth M; Reismann P
    Orv Hetil; 2017 Nov; 158(47):1883-1888. PubMed ID: 29153020
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.
    Xia Y; Huang S; Wu Y; Yang Y; Chen S; Li P; Zhuang J
    Mol Genet Genomic Med; 2019 Feb; 7(2):e00517. PubMed ID: 30565396
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Morphometric analysis of elastic skin fibres from patients with: cutis laxa, anetoderma, pseudoxanthoma elasticum, and Buschke-Ollendorff and Williams-Beuren syndromes.
    Ghomrasseni S; Dridi M; Bonnefoix M; Septier D; Gogly G; Pellat B; Godeau G
    J Eur Acad Dermatol Venereol; 2001 Jul; 15(4):305-11. PubMed ID: 11730039
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.