BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 31350873)

  • 1. TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia.
    Balkin DM; Poranki M; Forester CM; Dorsey MJ; Slavotinek A; Pomerantz JH
    Mol Genet Genomic Med; 2019 Sep; 7(9):e818. PubMed ID: 31350873
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.
    Pulman J; Ruzzenente B; Bianchi L; Rio M; Boddaert N; Munnich A; Rötig A; Metodiev MD
    Hum Mol Genet; 2019 May; 28(9):1445-1462. PubMed ID: 30566640
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
    Suleiman J; Riedhammer KM; Jicinsky T; Mundt M; Werner L; Gusic M; Burgemeister AL; Alsaif HS; Abdulrahim M; Moghrabi NN; Nicolas-Jilwan M; AlSayed M; Bi W; Sampath S; Alkuraya FS; El-Hattab AW
    Hum Mutat; 2019 Nov; 40(11):1985-1992. PubMed ID: 31209944
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.
    Lehalle D; Altunoglu U; Bruel AL; Assoum M; Duffourd Y; Masurel A; Baujat G; Bessieres B; Captier G; Edery P; Elçioğlu NH; Geneviève D; Goldenberg A; Héron D; Grotto S; Marlin S; Putoux A; Rossi M; Saugier-Veber P; Triau S; Cabrol C; Vézain M; Vincent-Delorme C; Thauvin-Robinet C; Thevenon J; Vabres P; Callier P; Kayserili H; Faivre L
    Am J Med Genet A; 2018 Dec; 176(12):2740-2750. PubMed ID: 30548201
    [TBL] [Abstract][Full Text] [Related]  

  • 5. TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.
    Suleiman J; Mundt M; Sampath S; El-Hattab AW
    Clin Genet; 2018 Jul; 94(1):170-173. PubMed ID: 29633245
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
    Choi A; Lao R; Ling-Fung Tang P; Wan E; Mayer W; Bardakjian T; Shaw GM; Kwok PY; Schneider A; Slavotinek A
    Eur J Hum Genet; 2015 Mar; 23(3):337-41. PubMed ID: 24939590
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
    Leone MP; Palumbo P; Palumbo O; Di Muro E; Chetta M; Laforgia N; Resta N; Stella A; Castellana S; Mazza T; Castori M; Carella M; Bukvic N
    Ital J Pediatr; 2020 May; 46(1):74. PubMed ID: 32460883
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
    Peter B; Waddington CL; Oláhová M; Sommerville EW; Hopton S; Pyle A; Champion M; Ohlson M; Siibak T; Chrzanowska-Lightowlers ZMA; Taylor RW; Falkenberg M; Lightowlers RN
    Hum Mol Genet; 2018 May; 27(10):1743-1753. PubMed ID: 29518248
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
    Qiao L; Xu L; Yu L; Wynn J; Hernan R; Zhou X; Farkouh-Karoleski C; Krishnan US; Khlevner J; De A; Zygmunt A; Crombleholme T; Lim FY; Needelman H; Cusick RA; Mychaliska GB; Warner BW; Wagner AJ; Danko ME; Chung D; Potoka D; Kosiński P; McCulley DJ; Elfiky M; Azarow K; Fialkowski E; Schindel D; Soffer SZ; Lyon JB; Zalieckas JM; Vardarajan BN; Aspelund G; Duron VP; High FA; Sun X; Donahoe PK; Shen Y; Chung WK
    Am J Hum Genet; 2021 Oct; 108(10):1964-1980. PubMed ID: 34547244
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
    Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
    Zazo-Seco C; Plaisancié J; Bitoun P; Corton M; Arteche A; Ayuso C; Schneider A; Zafeiropoulou D; Gilissen C; Roche O; Frémont F; Calvas P; Slavotinek A; Ragge N; Chassaing N
    J Hum Genet; 2020 May; 65(5):487-491. PubMed ID: 32015378
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 8q21.11 microdeletion in two patients with syndromic peters anomaly.
    Happ H; Schilter KF; Weh E; Reis LM; Semina EV
    Am J Med Genet A; 2016 Sep; 170(9):2471-5. PubMed ID: 27378168
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.
    Hu Y; Chen IP; de Almeida S; Tiziani V; Do Amaral CM; Gowrishankar K; Passos-Bueno MR; Reichenberger EJ
    PLoS One; 2013; 8(8):e73576. PubMed ID: 23951358
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
    Panicker SG; Sampath S; Mandal AK; Reddy AB; Ahmed N; Hasnain SE
    Invest Ophthalmol Vis Sci; 2002 Dec; 43(12):3613-6. PubMed ID: 12454026
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
    Alrakaf L; Al-Owain MA; Busehail M; Alotaibi MA; Monies D; Aldhalaan HM; Alhashem A; Al-Hassnan ZN; Rahbeeni ZA; Murshedi FA; Ani NA; Al-Maawali A; Ibrahim NA; Abdulwahab FM; Alsagob M; Hashem MO; Ramadan W; Abouelhoda M; Meyer BF; Kaya N; Maddirevula S; Alkuraya FS
    Am J Med Genet A; 2018 Mar; 176(3):715-721. PubMed ID: 29383837
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
    Blackburn PR; Chacon-Camacho OF; Ortiz-González XR; Reyes M; Lopez-Uriarte GA; Zarei S; Bhoj EJ; Perez-Solorzano S; Vaubel RA; Murphree MI; Nava J; Cortes-Gonzalez V; Parisi JE; Villanueva-Mendoza C; Tirado-Torres IG; Li D; Klee EW; Pichurin PN; Zenteno JC
    Am J Med Genet A; 2018 Dec; 176(12):2710-2719. PubMed ID: 30450772
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.
    Khan MI; Latif M; Saif M; Ahmad H; Khan AU; Naseer MI; Hussain HMJ; Jelani M
    J Gene Med; 2021 Jan; 23(1):e3279. PubMed ID: 32989887
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
    Wang P; Wu P; Wang J; Zeng Y; Jiang Y; Wang Y; Li S; Xiao X; Zhang Q
    Invest Ophthalmol Vis Sci; 2023 Mar; 64(3):19. PubMed ID: 36892533
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
    Dansault A; David G; Schwartz C; Jaliffa C; Vieira V; de la Houssaye G; Bigot K; Catin F; Tattu L; Chopin C; Halimi P; Roche O; Van Regemorter N; Munier F; Schorderet D; Dufier JL; Marsac C; Ricquier D; Menasche M; Penfornis A; Abitbol M
    Mol Vis; 2007 Apr; 13():511-23. PubMed ID: 17417613
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.