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 *

100 related articles for article (PubMed ID: 34708404)

  • 21. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
    Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
    Schüle B; Oviedo A; Johnston K; Pai S; Francke U
    Am J Hum Genet; 2005 Dec; 77(6):1117-28. PubMed ID: 16380922
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
    Guen VJ; Edvardson S; Fraenkel ND; Fattal-Valevski A; Jalas C; Anteby I; Shaag A; Dor T; Gillis D; Kerem E; Lees JA; Colas P; Elpeleg O
    Am J Med Genet A; 2018 Jan; 176(1):92-98. PubMed ID: 29130579
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
    Meng L; Donti T; Xia F; Niu Z; Al Shamsi A; Hertecant J; Al-Jasmi F; Gibson JB; Nagakura H; Zhang J; He W; Eng C; Yang Y; Elsea SH
    Am J Med Genet A; 2017 Feb; 173(2):460-470. PubMed ID: 27860360
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Further delineation of the phenotype caused by biallelic variants in the WDR4 gene.
    Trimouille A; Lasseaux E; Barat P; Deiller C; Drunat S; Rooryck C; Arveiler B; Lacombe D
    Clin Genet; 2018 Feb; 93(2):374-377. PubMed ID: 28617965
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
    Ranganath P; Matta D; Bhavani GS; Wangnekar S; Jain JM; Verma IC; Kabra M; Puri RD; Danda S; Gupta N; Girisha KM; Sankar VH; Patil SJ; Ramadevi AR; Bhat M; Gowrishankar K; Mandal K; Aggarwal S; Tamhankar PM; Tilak P; Phadke SR; Dalal A
    Am J Med Genet A; 2016 Oct; 170(10):2719-30. PubMed ID: 27338287
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Cerebral hypomyelination associated with biallelic variants of FIG4.
    Lenk GM; Berry IR; Stutterd CA; Blyth M; Green L; Vadlamani G; Warren D; Craven I; Fanjul-Fernandez M; Rodriguez-Casero V; Lockhart PJ; Vanderver A; Simons C; Gibb S; Sadedin S; ; White SM; Christodoulou J; Skibina O; Ruddle J; Tan TY; Leventer RJ; Livingston JH; Meisler MH
    Hum Mutat; 2019 May; 40(5):619-630. PubMed ID: 30740813
    [TBL] [Abstract][Full Text] [Related]  

  • 28. SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes.
    Ponard D; Gaboriaud C; Charignon D; Ghannam A; Wagenaar-Bos IGA; Roem D; López-Lera A; López-Trascasa M; Tosi M; Drouet C
    Hum Mutat; 2020 Jan; 41(1):38-57. PubMed ID: 31517426
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Establishing the role of
    Kurolap A; Eshach-Adiv O; Gonzaga-Jauregui C; Dolnikov K; Mory A; Paperna T; Hershkovitz T; Overton JD; Kaplan M; Glaser F; Zohar Y; Shuldiner AR; Berger G; Baris HN
    J Med Genet; 2018 Nov; 55(11):779-784. PubMed ID: 29875123
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.
    Shabrish S; Kelkar M; Yadav RM; Bargir UA; Gupta M; Dalvi A; Aluri J; Kulkarni M; Shinde S; Sawant-Desai S; Kambli P; Hule G; Setia P; Jodhawat N; Gaikwad P; Dhawale A; Nambiar N; Gowri V; Pandrowala A; Taur P; Raj R; Uppuluri R; Sharma R; Kini P; Sivasankaran M; Munirathnam D; Vedam R; Vignesh P; Banday A; Rawat A; Aggarwal A; Poddar U; Girish M; Chaudhary A; Sampagar A; Jayaraman D; Chaudhary N; Shah N; Jijina F; Chandrakla S; Kanakia S; Arora B; Sen S; Lokeshwar M; Desai M; Madkaikar M
    Front Immunol; 2021; 12():612583. PubMed ID: 33746956
    [TBL] [Abstract][Full Text] [Related]  

  • 31. RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
    Lopez-Rodriguez R; Lantero E; Blanco-Kelly F; Avila-Fernandez A; Martin Merida I; Del Pozo-Valero M; Perea-Romero I; Zurita O; Jiménez-Rolando B; Swafiri ST; Riveiro-Alvarez R; Trujillo-Tiebas MJ; Carreño Salas E; García-Sandoval B; Corton M; Ayuso C
    Exp Eye Res; 2021 Nov; 212():108761. PubMed ID: 34492281
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
    Riera-Escamilla A; Enguita-Marruedo A; Moreno-Mendoza D; Chianese C; Sleddens-Linkels E; Contini E; Benelli M; Natali A; Colpi GM; Ruiz-Castañé E; Maggi M; Baarends WM; Krausz C
    Hum Reprod; 2019 Jun; 34(6):978-988. PubMed ID: 31125047
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel phenotypes observed in patients with
    Karastaneva A; Nebral K; Schlagenhauf A; Baschin M; Palankar R; Juch H; Heitzer E; Speicher MR; Höfler G; Grigorow I; Urban C; Benesch M; Greinacher A; Haas OA; Seidel MG
    J Med Genet; 2020 Jun; 57(6):427-433. PubMed ID: 31704777
    [No Abstract]   [Full Text] [Related]  

  • 34. Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.
    Bottega R; Pecci A; De Candia E; Pujol-Moix N; Heller PG; Noris P; De Rocco D; Podda GM; Glembotsky AC; Cattaneo M; Balduini CL; Savoia A
    Haematologica; 2013 Jun; 98(6):868-74. PubMed ID: 23100277
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
    Salian S; Scala M; Nguyen TTM; Severino M; Accogli A; Amadori E; Torella A; Pinelli M; Hudson B; Boothe M; Hurst A; Ben-Omran T; Larsen MJ; Fagerberg CR; Sperling L; Miceikaite I; Herissant L; Doco-Fenzy M; Jennesson M; Nigro V; Striano P; Minetti C; Sachdev RK; Palmer EE; Capra V; Campeau PM
    Clin Genet; 2021 Nov; 100(5):607-614. PubMed ID: 34296759
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
    Leoni C; Gordon CT; Della Marca G; Giorgio V; Onesimo R; Perrino F; Cianfoni A; Cerchiari A; Amiel J; Zampino G
    Am J Med Genet A; 2016 Jun; 170(6):1471-8. PubMed ID: 27007857
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.
    Tesi B; Chiang SC; El-Ghoneimy D; Hussein AA; Langenskiöld C; Wali R; Fadoo Z; Silva JP; Lecumberri R; Unal S; Nordenskjöld M; Bryceson YT; Henter JI; Meeths M
    Pediatr Blood Cancer; 2015 Dec; 62(12):2094-100. PubMed ID: 26184781
    [TBL] [Abstract][Full Text] [Related]  

  • 38. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.
    Marsh RA; Satake N; Biroschak J; Jacobs T; Johnson J; Jordan MB; Bleesing JJ; Filipovich AH; Zhang K
    Pediatr Blood Cancer; 2010 Jul; 55(1):134-40. PubMed ID: 20486178
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.
    Guan J; Wang H; Lan L; Wang L; Yang J; Xie L; Yin Z; Xiong W; Zhao L; Wang D; Wang Q
    Am J Med Genet A; 2018 Jan; 176(1):99-106. PubMed ID: 29048736
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
    Micale L; Augello B; Fusco C; Selicorni A; Loviglio MN; Silengo MC; Reymond A; Gumiero B; Zucchetti F; D'Addetta EV; Belligni E; Calcagnì A; Digilio MC; Dallapiccola B; Faravelli F; Forzano F; Accadia M; Bonfante A; Clementi M; Daolio C; Douzgou S; Ferrari P; Fischetto R; Garavelli L; Lapi E; Mattina T; Melis D; Patricelli MG; Priolo M; Prontera P; Renieri A; Mencarelli MA; Scarano G; della Monica M; Toschi B; Turolla L; Vancini A; Zatterale A; Gabrielli O; Zelante L; Merla G
    Orphanet J Rare Dis; 2011 Jun; 6():38. PubMed ID: 21658225
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.