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 *

119 related articles for article (PubMed ID: 16761298)

  • 21. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
    Chassaing N; Golzio C; Odent S; Lequeux L; Vigouroux A; Martinovic-Bouriel J; Tiziano FD; Masini L; Piro F; Maragliano G; Delezoide AL; Attié-Bitach T; Manouvrier-Hanu S; Etchevers HC; Calvas P
    Hum Mutat; 2009 May; 30(5):E673-81. PubMed ID: 19309693
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.
    Sun H; Yu S; Zhou X; Han L; Zhang H; He Y
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1377. PubMed ID: 32597569
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?
    Segel R; Levy-Lahad E; Pasutto F; Picard E; Rauch A; Alterescu G; Schimmel MS
    Am J Med Genet A; 2009 Nov; 149A(11):2457-63. PubMed ID: 19839040
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.
    Slavotinek A; Lee SS; Hamilton SP
    Am J Med Genet A; 2005 Oct; 138A(2):89-94. PubMed ID: 16114045
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Status dystonicus, hyperpyrexia, and acute kidney injury in a patient with SOX2-anophthalmia syndrome.
    Martinez E; Madsen EC
    Am J Med Genet A; 2019 Jul; 179(7):1395-1397. PubMed ID: 30945433
    [No Abstract]   [Full Text] [Related]  

  • 26. [SOX2 defect and anophthalmia and microphthalmia].
    Ye FX; Fan XQ
    Zhonghua Yan Ke Za Zhi; 2012 Nov; 48(11):1049-52. PubMed ID: 23302280
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2.
    Sato N; Kamachi Y; Kondoh H; Shima Y; Morohashi K; Horikawa R; Ogata T
    Eur J Endocrinol; 2007 Feb; 156(2):167-71. PubMed ID: 17287405
    [TBL] [Abstract][Full Text] [Related]  

  • 28. SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?
    Ragge NK; Quaghebeur G; Stewart H
    Clin Genet; 2013 May; 83(5):482-4. PubMed ID: 22834934
    [No Abstract]   [Full Text] [Related]  

  • 29. Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.
    Prontera P; Stangoni G; Ardisia C; Rogaia D; Mencarelli A; Donti E
    Am J Med Genet A; 2011 Apr; 155A(4):928-30. PubMed ID: 21416586
    [No Abstract]   [Full Text] [Related]  

  • 30. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
    Schneider A; Bardakjian TM; Zhou J; Hughes N; Keep R; Dorsainville D; Kherani F; Katowitz J; Schimmenti LA; Hummel M; Fitzpatrick DR; Young TL
    Am J Med Genet A; 2008 Nov; 146A(21):2794-8. PubMed ID: 18831064
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia.
    Habibi I; Youssef M; Marzouk E; El Shakankiri N; Gawdat G; El Sada M; F Schorderet D; Abou Zeid H
    Adv Exp Med Biol; 2019; 1185():221-226. PubMed ID: 31884615
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome.
    Nobile S; Pisaneschi E; Novelli A; Carnielli VP
    Clin Dysmorphol; 2019 Apr; 28(2):74-77. PubMed ID: 30480585
    [No Abstract]   [Full Text] [Related]  

  • 33. Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.
    Ammar THA; Ismail S; Mansour OAA; El-Shafey MM; Doghish AS; Kamal AM; Abdel-Salam GMH
    Ophthalmic Genet; 2017; 38(5):498-500. PubMed ID: 28121235
    [No Abstract]   [Full Text] [Related]  

  • 34. Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids.
    Pankau R; Partsch CJ; Jänig U; Meinecke R
    Genet Couns; 1994; 5(2):191-4. PubMed ID: 7917132
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A founder variant expands the phenotype of WNT7B-related PDAC syndrome.
    AlAbdi L; Rahbeeni Z; Maddirevula S; Helaby R; Abdulwahab F; Khan AO; Riley LG; Alhashem A; Chassaing N; Jamieson RV; Alkuraya FS
    Clin Genet; 2024 Jul; 106(1):66-71. PubMed ID: 38417950
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.
    Numakura C; Kitanaka S; Kato M; Ishikawa S; Hamamoto Y; Katsushima Y; Kimura T; Hayasaka K
    Am J Med Genet A; 2010 Sep; 152A(9):2355-9. PubMed ID: 20803647
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The genetics of anophthalmia and microphthalmia.
    Bardakjian TM; Schneider A
    Curr Opin Ophthalmol; 2011 Sep; 22(5):309-13. PubMed ID: 21825993
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
    Pedace L; Castori M; Binni F; Pingi A; Grammatico B; Scommegna S; Majore S; Grammatico P
    Eur J Med Genet; 2009; 52(4):273-6. PubMed ID: 19254784
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.
    Akalin I; Senses DA; Ilgin-Ruhi H; Misirlioğlu E; Yalçiner M; Cetinkaya E; Fryns JP; Tükün A
    Genet Couns; 2005; 16(2):145-8. PubMed ID: 16080293
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Congenital anophthalmias: a case of trisomy 13].
    Kouassi FX; Koffi KV; Safede K; Cochard C; Cochener B
    J Fr Ophtalmol; 2006 Apr; 29(4):e10. PubMed ID: 16885798
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.