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 *

219 related articles for article (PubMed ID: 23337016)

  • 61. High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
    Purizaca-Rosillo N; Mori T; Benites-Cóndor Y; Hisama FM; Martin GM; Oshima J
    Am J Med Genet A; 2017 Feb; 173(2):471-478. PubMed ID: 27868354
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
    Vatier C; Vantyghem MC; Storey C; Jéru I; Christin-Maitre S; Fève B; Lascols O; Beltrand J; Carel JC; Vigouroux C; Bismuth E
    Curr Med Res Opin; 2019 Mar; 35(3):543-552. PubMed ID: 30296183
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
    Agarwal AK; Simha V; Oral EA; Moran SA; Gorden P; O'Rahilly S; Zaidi Z; Gurakan F; Arslanian SA; Klar A; Ricker A; White NH; Bindl L; Herbst K; Kennel K; Patel SB; Al-Gazali L; Garg A
    J Clin Endocrinol Metab; 2003 Oct; 88(10):4840-7. PubMed ID: 14557463
    [TBL] [Abstract][Full Text] [Related]  

  • 64. [Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].
    Wang Y; Zhu Y; Bai J; Liu Z; Chen X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Oct; 37(10):1158-1161. PubMed ID: 32924125
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Two unusual features in a child with Berardinelli-Seip congenital generalised lipodystrophy.
    Senanayake MP; Karunaratne I
    Ceylon Med J; 2014 Sep; 59(3):103-5. PubMed ID: 25286101
    [No Abstract]   [Full Text] [Related]  

  • 66. Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
    Akinci G; Topaloglu H; Akinci B; Onay H; Karadeniz C; Ergul Y; Demir T; Ozcan EE; Altay C; Atik T; Garg A
    Eur J Med Genet; 2016 Jun; 59(6-7):320-4. PubMed ID: 27167729
    [TBL] [Abstract][Full Text] [Related]  

  • 67. A Rare Case Of Berardinelli Seip Syndrome.
    Bibi S; Balti D; Mohammad K; Iqbal A; Gillani S; Siddiqui TS; Babar G; Hussain Gilani SY
    J Ayub Med Coll Abbottabad; 2020; 32(4):577-579. PubMed ID: 33225669
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Targeted massively parallel sequencing for congenital generalized lipodystrophy.
    Costa-Riquetto AD; Santana LS; Caetano LA; Lerário AM; Correia-Deur JEM; Bertola DR; Kim CA; Nery M; Jorge AAL; Teles MG
    Arch Endocrinol Metab; 2021 May; 64(5):559-566. PubMed ID: 34033296
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.
    Murakami N; Hayashi YK; Oto Y; Shiraishi M; Itabashi H; Kudo K; Nishino I; Nonaka I; Nagai T
    Neuromuscul Disord; 2013 May; 23(5):441-4. PubMed ID: 23489663
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Berardinelli syndrome. A case report with fatal outcome.
    Daher E; Silva Júnior G; Benevides V; Mendonça P; Bezerra H; Silva A; Fernandes V; Montenegro Júnior R; Azevedo MF
    Invest Clin; 2008 Jun; 49(2):251-5. PubMed ID: 18717270
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
    Schuster J; Khan TN; Tariq M; Shaiq PA; Mäbert K; Baig SM; Klar J
    BMC Med Genet; 2014 Jun; 15():71. PubMed ID: 24961962
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.
    Nilay Güneş ; Kutlu T; Tekant GT; Eroğlu AG; Üstündağ NÇ; Öztürk B; Onay H; Tüysüz B
    Eur J Med Genet; 2020 Apr; 63(4):103819. PubMed ID: 31778856
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case.
    Khandpur S; Kumar A; Khadgawat R
    Indian J Dermatol Venereol Leprol; 2011; 77(3):402. PubMed ID: 21508592
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Berardinelli-Seip Congenital Lipodystrophy Discovered Following a STEMI Event.
    Beires F; Greenfield H; Brito da Silva J; Gil J; Moreno N
    Eur J Case Rep Intern Med; 2022; 9(12):003658. PubMed ID: 36632537
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Pathology of congenital generalized lipodystrophy in Agpat2-/- mice.
    Vogel P; Read R; Hansen G; Wingert J; Dacosta CM; Buhring LM; Shadoan M
    Vet Pathol; 2011 May; 48(3):642-54. PubMed ID: 21051554
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy.
    Khalife WI; Mourtada MC; Khalil J
    Tex Heart Inst J; 2008; 35(2):196-9. PubMed ID: 18612489
    [TBL] [Abstract][Full Text] [Related]  

  • 77. [Therapy resistant diabetes mellitus and lipodystrophy: leptin therapy leads to improvement].
    Jazet IM; Jonker JT; Wijngaarden MA; Lamb H; Smelt AH
    Ned Tijdschr Geneeskd; 2013; 157(4):A5482. PubMed ID: 23343738
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients.
    Gomes KB; Pardini VC; Ferreira AC; Fernandes AP
    J Inherit Metab Dis; 2005; 28(6):1123-31. PubMed ID: 16435205
    [TBL] [Abstract][Full Text] [Related]  

  • 79. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
    Agarwal AK; Arioglu E; De Almeida S; Akkoc N; Taylor SI; Bowcock AM; Barnes RI; Garg A
    Nat Genet; 2002 May; 31(1):21-3. PubMed ID: 11967537
    [TBL] [Abstract][Full Text] [Related]  

  • 80. High bone mass associated with berardinelli lipodystrophy.
    Bandeira FF; Miranda CR; Waechter C; Bandeira ME
    Endocr Pract; 2007; 13(7):764-9. PubMed ID: 18194934
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.