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 *

187 related articles for article (PubMed ID: 35263396)

  • 21. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
    Machol K; Jain M; Almannai M; Orand T; Lu JT; Tran A; Chen Y; Schlesinger A; Gibbs R; Bonafe L; Campos-Xavier AB; Unger S; Superti-Furga A; Lee BH; Campeau PM; Burrage LC
    Am J Med Genet A; 2017 Mar; 173(3):733-739. PubMed ID: 27888646
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.
    Giedion A; Boltshauser E; Briner J; Eich G; Exner G; Fendel H; Kaufmann L; Steinmann B; Spranger J; Superti-Furga A
    Eur J Pediatr; 1997 Mar; 156(3):214-23. PubMed ID: 9083764
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
    Zhang H; Yang R; Wang Y; Ye J; Han L; Qiu W; Gu X
    J Hum Genet; 2015 Dec; 60(12):769-76. PubMed ID: 26377240
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Expanding the phenome and variome of skeletal dysplasia.
    Maddirevula S; Alsahli S; Alhabeeb L; Patel N; Alzahrani F; Shamseldin HE; Anazi S; Ewida N; Alsaif HS; Mohamed JY; Alazami AM; Ibrahim N; Abdulwahab F; Hashem M; Abouelhoda M; Monies D; Al Tassan N; Alshammari M; Alsagheir A; Seidahmed MZ; Sogati S; Aglan MS; Hamad MH; Salih MA; Hamed AA; Alhashmi N; Nabil A; Alfadli F; Abdel-Salam GMH; Alkuraya H; Peitee WO; Keng WT; Qasem A; Mushiba AM; Zaki MS; Fassad MR; Alfadhel M; Alexander S; Sabr Y; Temtamy S; Ekbote AV; Ismail S; Hosny GA; Otaify GA; Amr K; Al Tala S; Khan AO; Rizk T; Alaqeel A; Alsiddiky A; Singh A; Kapoor S; Alhashem A; Faqeih E; Shaheen R; Alkuraya FS
    Genet Med; 2018 Dec; 20(12):1609-1616. PubMed ID: 29620724
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Osteochondrodysplasia determined genetically by a collagen type II gene mutation].
    Czarny-Ratajczak M; Rogala P; Wolnik-Brzozowska D; Latos-Bieleńska A
    Chir Narzadow Ruchu Ortop Pol; 2001; 66(1):79-86. PubMed ID: 11481990
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A genetic approach to the diagnosis of skeletal dysplasia.
    Unger S
    Clin Orthop Relat Res; 2002 Aug; (401):32-8. PubMed ID: 12151880
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
    Riise N; Lindberg BR; Kulseth MA; Fredwall SO; Lundby R; Estensen ME; Drolsum L; Merckoll E; Krohg-Sørensen K; Paus B
    BMC Med Genet; 2018 Aug; 19(1):155. PubMed ID: 30170566
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population.
    Al-Gazali LI; Bakir M; Hamid Z; Varady E; Varghes M; Haas D; Bener A; Padmanabhan R; Abdulrrazzaq YM; Dawadu A
    Birth Defects Res A Clin Mol Teratol; 2003 Feb; 67(2):125-32. PubMed ID: 12769508
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.
    Marshall CJ; Arundel P; Mushtaq T; Offiah AC; Pollitt RC; Bishop NJ; Balasubramanian M
    Am J Med Genet A; 2016 Dec; 170(12):3303-3307. PubMed ID: 27549894
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Genetic skeletal dysplasia in Thailand: the Siriraj experience.
    Wasant P; Waeteekul S; Rimoin DL; Lachman RS
    Southeast Asian J Trop Med Public Health; 1995; 26 Suppl 1():59-67. PubMed ID: 8629144
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus.
    Vujic M; Hallstensson K; Wahlström J; Lundberg A; Langmaack C; Martinson T
    Am J Hum Genet; 1995 Nov; 57(5):1104-13. PubMed ID: 7485161
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
    Simsek-Kiper PO; Taskiran EZ; Kosukcu C; Urel-Demir G; Akgun-Dogan O; Yilmaz G; Utine GE; Nishimura G; Boduroglu K; Alikasifoglu M
    Am J Med Genet A; 2018 Sep; 176(9):2009-2016. PubMed ID: 30063090
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.
    Uttarilli A; Shah H; Bhavani GS; Upadhyai P; Shukla A; Girisha KM
    Bone; 2019 Mar; 120():204-211. PubMed ID: 30408610
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Bone dysplasias in 1.6 million births in Argentina.
    Duarte SP; Rocha ME; Bidondo MP; Liascovich R; Barbero P; Groisman B
    Eur J Med Genet; 2019 Dec; 62(12):103603. PubMed ID: 30572171
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
    Chandler N; Best S; Hayward J; Faravelli F; Mansour S; Kivuva E; Tapon D; Male A; DeVile C; Chitty LS
    Genet Med; 2018 Nov; 20(11):1430-1437. PubMed ID: 29595812
    [TBL] [Abstract][Full Text] [Related]  

  • 36. New era in genetics of early-onset muscle disease: Breakthroughs and challenges.
    Ravenscroft G; Davis MR; Lamont P; Forrest A; Laing NG
    Semin Cell Dev Biol; 2017 Apr; 64():160-170. PubMed ID: 27519468
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Axial spondylometaphyseal dysplasia: additional reports.
    Suzuki S; Kim OH; Makita Y; Saito T; Lim GY; Cho TJ; Al-Swaid A; Alrasheed S; Sadoon E; Miyazaki O; Nishina S; Superti-Furga A; Unger S; Fujieda K; Ikegawa S; Nishimura G
    Am J Med Genet A; 2011 Oct; 155A(10):2521-8. PubMed ID: 21910225
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular-pathogenetic classification of genetic disorders of the skeleton.
    Superti-Furga A; Bonafé L; Rimoin DL
    Am J Med Genet; 2001; 106(4):282-93. PubMed ID: 11891680
    [TBL] [Abstract][Full Text] [Related]  

  • 39. International nosology and classification of constitutional disorders of bone (2001).
    Hall CM
    Am J Med Genet; 2002 Nov; 113(1):65-77. PubMed ID: 12400068
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
    Bhattacharya S; Li J; Sockell A; Kan MJ; Bava FA; Chen SC; Ávila-Arcos MC; Ji X; Smith E; Asadi NB; Lachman RS; Lam HYK; Bustamante CD; Butte AJ; Nolan GP
    Genome Res; 2018 Apr; 28(4):423-431. PubMed ID: 29567674
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.