BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 34612517)

  • 21. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
    Loong L; Tardivo A; Knaus A; Hashim M; Pagnamenta AT; Alt K; Böhrer-Rabel H; Caro-Llopis A; Cole T; Distelmaier F; Edery P; Ferreira CR; Jezela-Stanek A; Kerr B; Kluger G; Krawitz PM; Kuhn M; Lemke JR; Lesca G; Lynch SA; Martinez F; Maxton C; Mierzewska H; Monfort S; Nicolai J; Orellana C; Pal DK; Płoski R; Quarrell OW; Rosello M; Rydzanicz M; Sabir A; Śmigiel R; Stegmann APA; Stewart H; Stumpel C; Szczepanik E; Tzschach A; Wolfe L; Taylor JC; Murakami Y; Kinoshita T; Bayat A; Kini U
    Genet Med; 2023 Jan; 25(1):37-48. PubMed ID: 36322149
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.
    Patterson J; Coats C; McGowan R
    Am J Med Genet A; 2020 Jul; 182(7):1725-1734. PubMed ID: 32449309
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.
    Rea G; McCullough S; McNerlan S; Craig B; Morrison PJ
    Eur J Med Genet; 2010; 53(3):162-7. PubMed ID: 20215058
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Outcomes of Truncus Arteriosus Repair in Children: 35 Years of Experience From a Single Institution.
    Naimo PS; Fricke TA; Yong MS; d'Udekem Y; Kelly A; Radford DJ; Bullock A; Weintraub RG; Brizard CP; Konstantinov IE
    Semin Thorac Cardiovasc Surg; 2016 Summer; 28(2):500-511. PubMed ID: 28043468
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Crossed pulmonary arteries: a report on 20 cases with an emphasis on the clinical features and the genetic and cardiac abnormalities.
    Babaoğlu K; Altun G; Binnetoğlu K; Dönmez M; Kayabey Ö; Anık Y
    Pediatr Cardiol; 2013; 34(8):1785-90. PubMed ID: 23660850
    [TBL] [Abstract][Full Text] [Related]  

  • 26. ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
    Massadeh S; Alhashem A; van de Laar IMBH; Alhabshan F; Ordonez N; Alawbathani S; Khan S; Kabbani MS; Chaikhouni F; Sheereen A; Almohammed I; Alghamdi B; Frohn-Mulder I; Ahmad S; Beetz C; Bauer P; Wessels MW; Alaamery M; Bertoli-Avella AM
    Clin Genet; 2020 Jul; 98(1):56-63. PubMed ID: 32323311
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery.
    Ziolkowska L; Kawalec W; Turska-Kmiec A; Krajewska-Walasek M; Brzezinska-Rajszys G; Daszkowska J; Maruszewski B; Burczynski P
    Eur J Pediatr; 2008 Oct; 167(10):1135-40. PubMed ID: 18172682
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The SHDRA syndrome-associated gene
    Larsen ISB; Povolo L; Zhou L; Tian W; Mygind KJ; Hintze J; Jiang C; Hartill V; Prescott K; Johnson CA; Mullegama SV; McConkie-Rosell A; McDonald M; Hansen L; Vakhrushev SY; Schjoldager KT; Clausen H; Worzfeld T; Joshi HJ; Halim A
    Proc Natl Acad Sci U S A; 2023 May; 120(21):e2302584120. PubMed ID: 37186866
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.
    Al-Hamed MH; Alsahan N; Tulbah M; Kurdi W; Ali W; Sayer JA; Imtiaz F
    Genes (Basel); 2020 Aug; 11(9):. PubMed ID: 32825426
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome?
    Ozkaya H; Akcan AB; Aydemir G; Aydınöz S; Kul M; Karademir F; Süleymanoğlu S
    Ren Fail; 2011; 33(6):635-8. PubMed ID: 21663390
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 22q11.2 deletion syndrome and congenital heart disease.
    Goldmuntz E
    Am J Med Genet C Semin Med Genet; 2020 Mar; 184(1):64-72. PubMed ID: 32049433
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Multiple congenital heart anomalies in five Arabian foals.
    Bayly WM; Reed SM; Leathers CW; Brown CM; Traub JL; Paradis MR; Palmer GH
    J Am Vet Med Assoc; 1982 Oct; 181(7):684-9. PubMed ID: 7141965
    [TBL] [Abstract][Full Text] [Related]  

  • 33. ENU induced mutations causing congenital cardiovascular anomalies.
    Yu Q; Shen Y; Chatterjee B; Siegfried BH; Leatherbury L; Rosenthal J; Lucas JF; Wessels A; Spurney CF; Wu YJ; Kirby ML; Svenson K; Lo CW
    Development; 2004 Dec; 131(24):6211-23. PubMed ID: 15548583
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
    El Chehadeh S; Kerstjens-Frederikse WS; Thevenon J; Kuentz P; Bruel AL; Thauvin-Robinet C; Bensignor C; Dollfus H; Laugel V; Rivière JB; Duffourd Y; Bonnet C; Robert MP; Isaiko R; Straub M; Creuzot-Garcher C; Calvas P; Chassaing N; Loeys B; Reyniers E; Vandeweyer G; Kooy F; Hančárová M; Havlovicová M; Prchalová D; Sedláček Z; Gilissen C; Pfundt R; Wassink-Ruiter JSK; Faivre L
    Eur J Hum Genet; 2016 Jan; 25(1):43-51. PubMed ID: 27804958
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.
    Rajagopalan R; Grochowski CM; Gilbert MA; Falsey AM; Coleman K; Romero R; Loomes KM; Piccoli DA; Devoto M; Spinner NB
    Am J Med Genet A; 2016 Mar; 170(3):750-3. PubMed ID: 26697755
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
    Lahrouchi N; Postma AV; Salazar CM; De Laughter DM; Tjong F; Piherová L; Bowling FZ; Zimmerman D; Lodder EM; Ta-Shma A; Perles Z; Beekman L; Ilgun A; Gunst Q; Hababa M; Škorić-Milosavljević D; Stránecký V; Tomek V; de Knijff P; de Leeuw R; Robinson JY; Burn SC; Mustafa H; Ambrose M; Moss T; Jacober J; Niyazov DM; Wolf B; Kim KH; Cherny S; Rousounides A; Aristidou-Kallika A; Tanteles G; Ange-Line B; Denommé-Pichon AS; Francannet C; Ortiz D; Haak MC; Ten Harkel AD; Manten GT; Dutman AC; Bouman K; Magliozzi M; Radio FC; Santen GW; Herkert JC; Brown HA; Elpeleg O; van den Hoff MJ; Mulder B; Airola MV; Kmoch S; Barnett JV; Clur SA; Frohman MA; Bezzina CR
    J Clin Invest; 2021 Mar; 131(5):. PubMed ID: 33645542
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.
    Koçak Eker H; Altunoglu U; Toksoy G; Kayserili H
    Clin Dysmorphol; 2016 Oct; 25(4):192-4. PubMed ID: 27552067
    [No Abstract]   [Full Text] [Related]  

  • 38. Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.
    Sakaria RP; Zaveri PG; Holtrop S; Zhang J; Brown CW; Pivnick EK
    Front Genet; 2021; 12():766316. PubMed ID: 34899850
    [TBL] [Abstract][Full Text] [Related]  

  • 39. TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.
    Patel C; Silcock L; McMullan D; Brueton L; Cox H
    Eur J Hum Genet; 2012 Aug; 20(8):863-9. PubMed ID: 22333898
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.
    Shaheen R; Al Hashem A; Alghamdi MH; Seidahmad MZ; Wakil SM; Dagriri K; Keavney B; Goodship J; Alyousif S; Al-Habshan FM; Alhussein K; Almoisheer A; Ibrahim N; Alkuraya FS
    J Med Genet; 2015 May; 52(5):322-9. PubMed ID: 25713110
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.