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 *

159 related articles for article (PubMed ID: 31309540)

  • 1. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
    Karolak JA; Szafranski P; Kilner D; Patel C; Scurry B; Kinning E; Chandler K; Jhangiani SN; Coban Akdemir ZH; Lupski JR; Popek E; Stankiewicz P
    Clin Genet; 2019 Oct; 96(4):366-370. PubMed ID: 31309540
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotype characterisation of
    Galambos C; Mullen MP; Shieh JT; Schwerk N; Kielt MJ; Ullmann N; Boldrini R; Stucin-Gantar I; Haass C; Bansal M; Agrawal PB; Johnson J; Peca D; Surace C; Cutrera R; Pauciulo MW; Nichols WC; Griese M; Ivy D; Abman SH; Austin ED; Danhaive O
    Eur Respir J; 2019 Aug; 54(2):. PubMed ID: 31151956
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
    Szafranski P; Coban-Akdemir ZH; Rupps R; Grazioli S; Wensley D; Jhangiani SN; Popek E; Lee AF; Lupski JR; Boerkoel CF; Stankiewicz P
    Am J Med Genet A; 2016 Sep; 170(9):2440-4. PubMed ID: 27374786
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.
    Li N; Xu Y; Li G; Yu T; Yao RE; Wang X; Wang J
    Medicine (Baltimore); 2017 May; 96(20):e6914. PubMed ID: 28514307
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.
    Winczewska-Wiktor A; Badura-Stronka M; Monies-Nowicka A; Nowicki MM; Steinborn B; Latos-Bieleńska A; Monies D
    BMC Neurol; 2016 Mar; 16():35. PubMed ID: 26968164
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
    Kuechler A; Willemsen MH; Albrecht B; Bacino CA; Bartholomew DW; van Bokhoven H; van den Boogaard MJ; Bramswig N; Büttner C; Cremer K; Czeschik JC; Engels H; van Gassen K; Graf E; van Haelst M; He W; Hogue JS; Kempers M; Koolen D; Monroe G; de Munnik S; Pastore M; Reis A; Reuter MS; Tegay DH; Veltman J; Visser G; van Hasselt P; Smeets EE; Vissers L; Wieland T; Wissink W; Yntema H; Zink AM; Strom TM; Lüdecke HJ; Kleefstra T; Wieczorek D
    Hum Genet; 2015 Jan; 134(1):97-109. PubMed ID: 25326669
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Long-Term Effect of
    Doughty ES; Norvik C; Levin A; Bodmer J; Tran-Lundmark K; Abman SH; Galambos C
    Pediatr Dev Pathol; 2024; 27(1):83-89. PubMed ID: 37801629
    [TBL] [Abstract][Full Text] [Related]  

  • 8. TBX4 variants and pulmonary diseases: getting out of the 'Box'.
    Haarman MG; Kerstjens-Frederikse WS; Berger RMF
    Curr Opin Pulm Med; 2020 May; 26(3):277-284. PubMed ID: 32195678
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
    Zhu N; Swietlik EM; Welch CL; Pauciulo MW; Hagen JJ; Zhou X; Guo Y; Karten J; Pandya D; Tilly T; Lutz KA; Martin JM; Treacy CM; Rosenzweig EB; Krishnan U; Coleman AW; Gonzaga-Jauregui C; Lawrie A; Trembath RC; Wilkins MR; ; ; ; ; Morrell NW; Shen Y; Gräf S; Nichols WC; Chung WK
    Genome Med; 2021 May; 13(1):80. PubMed ID: 33971972
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diminished
    Szafranski P; Patrizi S; Gambin T; Afzal B; Schlotterbeck E; Karolak JA; Deutsch G; Roberts D; Stankiewicz P
    Pediatr Dev Pathol; 2024; 27(3):255-259. PubMed ID: 38044468
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.
    Karolak JA; Gambin T; Honey EM; Slavik T; Popek E; Stankiewicz P
    BMC Med Genomics; 2020 Mar; 13(1):34. PubMed ID: 32143628
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.
    Yıldız Bölükbaşı E; Karolak JA; Szafranski P; Gambin T; Murik O; Zeevi DA; Altarescu G; Stankiewicz P
    Am J Med Genet A; 2022 May; 188(5):1420-1425. PubMed ID: 35075769
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.
    Bzdęga K; Biela M; Deutsch GH; Kitzmiller JA; Rydzanicz M; Płoski R; Whitsett JA; Śmigiel R; Karolak JA
    Clin Genet; 2024 Feb; 105(2):190-195. PubMed ID: 37821225
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
    Karolak JA; Vincent M; Deutsch G; Gambin T; Cogné B; Pichon O; Vetrini F; Mefford HC; Dines JN; Golden-Grant K; Dipple K; Freed AS; Leppig KA; Dishop M; Mowat D; Bennetts B; Gifford AJ; Weber MA; Lee AF; Boerkoel CF; Bartell TM; Ward-Melver C; Besnard T; Petit F; Bache I; Tümer Z; Denis-Musquer M; Joubert M; Martinovic J; Bénéteau C; Molin A; Carles D; André G; Bieth E; Chassaing N; Devisme L; Chalabreysse L; Pasquier L; Secq V; Don M; Orsaria M; Missirian C; Mortreux J; Sanlaville D; Pons L; Küry S; Bézieau S; Liet JM; Joram N; Bihouée T; Scott DA; Brown CW; Scaglia F; Tsai AC; Grange DK; Phillips JA; Pfotenhauer JP; Jhangiani SN; Gonzaga-Jauregui CG; Chung WK; Schauer GM; Lipson MH; Mercer CL; van Haeringen A; Liu Q; Popek E; Coban Akdemir ZH; Lupski JR; Szafranski P; Isidor B; Le Caignec C; Stankiewicz P
    Am J Hum Genet; 2019 Feb; 104(2):213-228. PubMed ID: 30639323
    [TBL] [Abstract][Full Text] [Related]  

  • 15. First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
    Prapa M; Lago-Docampo M; Swietlik EM; Montani D; Eyries M; Humbert M; Welch CL; Chung WK; Berger RMF; Bogaard HJ; Danhaive O; Escribano-Subías P; Gall H; Girerd B; Hernandez-Gonzalez I; Holden S; Hunt D; Jansen SMA; Kerstjens-Frederikse W; Kiely DG; Lapunzina P; McDermott J; Moledina S; Pepke-Zaba J; Polwarth GJ; Schotte G; Tenorio-Castaño J; Thompson AAR; Wharton J; Wort SJ; Megy K; Mapeta R; Treacy CM; Martin JM; Li W; Swift AJ; Upton PD; Morrell NW; Gräf S; Valverde D; ; ;
    Am J Respir Crit Care Med; 2022 Dec; 206(12):1522-1533. PubMed ID: 35852389
    [No Abstract]   [Full Text] [Related]  

  • 16. Genetic and functional analyses of TBX4 reveal novel mechanisms underlying pulmonary arterial hypertension.
    Yoshida Y; Uchida K; Kodo K; Shibata H; Furutani Y; Nakayama T; Sakai S; Nakanishi T; Takahashi T; Yamagishi H
    J Mol Cell Cardiol; 2022 Oct; 171():105-116. PubMed ID: 35914404
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
    Dubruc E; Putoux A; Labalme A; Rougeot C; Sanlaville D; Edery P
    Am J Med Genet A; 2014 Jun; 164A(6):1571-5. PubMed ID: 24668549
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.
    Maddaloni C; Ronci S; De Rose DU; Bersani I; Campi F; Di Nardo M; Stoppa F; Adorisio R; Amodeo A; Toscano A; Digilio MC; Novelli A; Chello G; Braguglia A; Dotta A; Calzolari F
    Ital J Pediatr; 2024 Mar; 50(1):41. PubMed ID: 38443964
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
    Heimer G; Marek-Yagel D; Eyal E; Barel O; Oz Levi D; Hoffmann C; Ruzzo EK; Ganelin-Cohen E; Lancet D; Pras E; Rechavi G; Nissenkorn A; Anikster Y; Goldstein DB; Ben Zeev B
    Clin Genet; 2015 Oct; 88(4):327-35. PubMed ID: 26138499
    [TBL] [Abstract][Full Text] [Related]  

  • 20. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
    Kerstjens-Frederikse WS; Bongers EM; Roofthooft MT; Leter EM; Douwes JM; Van Dijk A; Vonk-Noordegraaf A; Dijk-Bos KK; Hoefsloot LH; Hoendermis ES; Gille JJ; Sikkema-Raddatz B; Hofstra RM; Berger RM
    J Med Genet; 2013 Aug; 50(8):500-6. PubMed ID: 23592887
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.