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 *

231 related articles for article (PubMed ID: 16807158)

  • 41. MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.
    Carcao M; Blaser SI; Grant RM; Weksberg R; Siegel-Bartelt J
    Am J Med Genet; 1998 Mar; 76(2):165-7. PubMed ID: 9511980
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Rare CCND2 (p.Thr280Ile) Variant Associated With Infantile Spasms in a Patient With Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.
    Mok KM; Carpenter JL; Herrada P; Greene C; Yazbek S; Erdemir G
    Pediatr Neurol; 2024 Dec; 161():185-187. PubMed ID: 39395260
    [TBL] [Abstract][Full Text] [Related]  

  • 43. A case of congenital bilateral perisylvian syndrome due to bilateral schizencephaly.
    Vinayan KP; Terada K
    Epileptic Disord; 2007 Jun; 9(2):190-3. PubMed ID: 17525033
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?
    Goossens L; Janssens S; Meersschaut V; Peeters H; Devlieger H; Devriendt K
    Clin Dysmorphol; 2006 Apr; 15(2):71-4. PubMed ID: 16531731
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma.
    Sandal G; Tok L; Ormeci AR
    Genet Couns; 2014; 25(1):49-52. PubMed ID: 24783655
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?
    Franceschini P; Licata D; Di Cara G; Guala A; Franceschini D; Genitori L
    Am J Med Genet; 2000 Feb; 90(4):265-9. PubMed ID: 10710221
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Acrocallosal syndrome in two African brothers born to consanguineous parents.
    Christianson AL; Venter PA; Du Toit JL; Shipalana N; Gericke GS
    Am J Med Genet; 1994 Jun; 51(2):98-101. PubMed ID: 8092201
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Greig cephalopolysyndactyly syndrome in a family.
    Wang CH; Tsai FJ; Shi YR
    Acta Paediatr Taiwan; 2006; 47(2):95-9. PubMed ID: 16927636
    [TBL] [Abstract][Full Text] [Related]  

  • 49. MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations.
    Sameshima T; Morisada N; Egawa T; Kugo M; Iijima K
    Pediatr Int; 2020 Jan; 62(1):115-117. PubMed ID: 31957131
    [No Abstract]   [Full Text] [Related]  

  • 50. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.
    Nellist M; Schot R; Hoogeveen-Westerveld M; Neuteboom RF; van der Louw EJ; Lequin MH; Bindels-de Heus K; Sibbles BJ; de Coo R; Brooks A; Mancini GM
    Mol Genet Metab; 2015 Mar; 114(3):467-73. PubMed ID: 25523067
    [TBL] [Abstract][Full Text] [Related]  

  • 51. The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.
    Goergen SK; Alibrahim E; Christie J; Dobrotwir A; Fahey M; Fender L; Frawley K; Manikkam SA; Pinner JR; Sinnott S; Romaniello R; Sandaradura SA; Taylor J; Vasudevan A; Righini A
    AJNR Am J Neuroradiol; 2021 Aug; 42(8):1528-1534. PubMed ID: 33958329
    [TBL] [Abstract][Full Text] [Related]  

  • 52. [Ito hypomelanosis (incontinentia pigmenti achromians)].
    Liptai Z; Kálmánchey R; Marschalkó M; Barsi P
    Orv Hetil; 1998 Oct; 139(43):2587-91. PubMed ID: 9825649
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
    Mirzaa GM; Conti V; Timms AE; Smyser CD; Ahmed S; Carter M; Barnett S; Hufnagel RB; Goldstein A; Narumi-Kishimoto Y; Olds C; Collins S; Johnston K; Deleuze JF; Nitschké P; Friend K; Harris C; Goetsch A; Martin B; Boyle EA; Parrini E; Mei D; Tattini L; Slavotinek A; Blair E; Barnett C; Shendure J; Chelly J; Dobyns WB; Guerrini R
    Lancet Neurol; 2015 Dec; 14(12):1182-95. PubMed ID: 26520804
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations.
    Vaglio A; Milunsky A; Huang XL; Quadrelli A; Mechoso B; Maher TA; Quadrelli R
    Eur J Med Genet; 2008; 51(4):332-42. PubMed ID: 18316257
    [TBL] [Abstract][Full Text] [Related]  

  • 55. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.
    Aykut A; Cogulu O; Ekmekci AY; Ozkinay F
    Genet Couns; 2008; 19(2):237-40. PubMed ID: 18618999
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Large chondroma of the dural convexity in a patient with Noonan's syndrome. Case report and review of the literature.
    Delgado-López PD; Martín-Velasco V; Galacho-Harriero AM; Castilla-Díez JM; Rodríguez-Salazar A; Echevarría-Iturbe C
    Neurocirugia (Astur); 2007 Jun; 18(3):241-6. PubMed ID: 17622464
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Obstructive hydrocephalus and progressive psychosis: rare presentations of neurosarcoidosis.
    Westhout FD; Linskey ME
    Surg Neurol; 2008 Mar; 69(3):288-92; discussion 292. PubMed ID: 17976699
    [TBL] [Abstract][Full Text] [Related]  

  • 58. The neurological evolution of Pearson syndrome: case report and literature review.
    Lee HF; Lee HJ; Chi CS; Tsai CR; Chang TK; Wang CJ
    Eur J Paediatr Neurol; 2007 Jul; 11(4):208-14. PubMed ID: 17434771
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Progressive brainstem compression in an infant with neurocutaneous melanosis and Dandy-Walker complex following ventriculoperitoneal shunt placement for hydrocephalus. Case report.
    McClelland S; Charnas LR; SantaCruz KS; Garner HP; Lam CH
    J Neurosurg; 2007 Dec; 107(6 Suppl):500-3. PubMed ID: 18154021
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [Clinical and etiopathogenetic aspects of lissencephaly type II syndrome].
    Mielke R; Lu JH; Kochs G; Kowalewski S
    Monatsschr Kinderheilkd; 1987 Nov; 135(11):780-3. PubMed ID: 3431559
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.