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 *

151 related articles for article (PubMed ID: 18388781)

  • 41. Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features.
    Van Dijk FS; van Thuijl HF; Wermeskerken A; van Rijn RR; Cobben JM
    Eur J Med Genet; 2011; 54(3):284-6. PubMed ID: 21167328
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?
    García-Ortiz JE; García-Cruz D; Dávalos IP; Nazará Z; García-Cruz MO; Castañeda V; Gutiérrez-Mendivil L; Sánchez-Corona J
    Clin Dysmorphol; 2007 Jan; 16(1):15-20. PubMed ID: 17159509
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.
    Castori M; Pascolini G; Parisi V; Sana ME; Novelli A; Nürnberg P; Iascone M; Grammatico P
    Am J Med Genet A; 2015 Apr; 167A(4):842-51. PubMed ID: 25708316
    [TBL] [Abstract][Full Text] [Related]  

  • 44. The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.
    Li H; Cheng B; Hu X; Li C; Su J; Zhang S; Li L; Li M; Yang K; He S; Chen S; Wang H; Liu G; Shen Y
    Clin Chim Acta; 2020 Jan; 500():128-134. PubMed ID: 31654632
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation.
    Gupta A; Hall CM; Ransley YF; Murday VA
    J Med Genet; 1995 Oct; 32(10):809-12. PubMed ID: 8558561
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype.
    van Steensel MA; Vreeburg M; Steijlen PM; de Die-Smulders C
    Am J Med Genet A; 2005 Dec; 139A(2):127-30. PubMed ID: 16278892
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Second trimester diagnosis of Neu Laxova syndrome.
    Shivarajan MA; Suresh S; Jagadeesh S; Lata S; Bhat L
    Prenat Diagn; 2003 Jan; 23(1):21-4. PubMed ID: 12533807
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.
    Danyel M; Kortüm F; Dathe K; Kutsche K; Horn D
    Am J Med Genet A; 2018 Apr; 176(4):992-996. PubMed ID: 29575616
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings.
    Mihci E; Simsek M; Mendilcioglu I; Tacoy S; Karaveli S
    Fetal Diagn Ther; 2005; 20(3):167-70. PubMed ID: 15824491
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.
    Tamhankar PM; Vasudevan L; Bansal V; Menon SR; Gawde HM; D'Souza A; Babu S; Kondurkar S; Adhia R; Das DK
    Eur J Med Genet; 2015 Aug; 58(8):392-9. PubMed ID: 26117586
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Prenatal diagnosis of limb-body wall complex with craniofacial defects, amniotic bands, adhesions and upper limb deficiency.
    Chen CP
    Prenat Diagn; 2001 May; 21(5):418-9. PubMed ID: 11360287
    [No Abstract]   [Full Text] [Related]  

  • 52. Desbuquois syndrome in an Arab Bedouin family.
    al-Gazeli LI; Aziz SA; Bakalinova D
    Clin Genet; 1996 Oct; 50(4):255-9. PubMed ID: 9001812
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.
    Oudesluijs G; Simon ME; Burggraaf RH; Waterham HR; Hennekam RC
    Am J Med Genet A; 2012 Feb; 158A(2):292-7. PubMed ID: 22140078
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Syndactyly, micrognathia and skeletal anomalies: a new syndrome?
    McGaughran J; Moore L; Russell S; Donnai D
    Clin Dysmorphol; 1998 Apr; 7(2):119-22. PubMed ID: 9571282
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Further support for first-trimester disruption causing the oromandibular-limb hypogenesis spectrum of anomalies.
    Milam RW; Cabrera MT; Carter LA; Warner DD; Wereszczak JK; Aylsworth AS
    Clin Dysmorphol; 2014 Jul; 23(3):101-104. PubMed ID: 24859495
    [No Abstract]   [Full Text] [Related]  

  • 56. First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature.
    Dolan SM; Shanske AL; Marion RW; Gross SJ
    Prenat Diagn; 2003 Feb; 23(2):138-42. PubMed ID: 12575021
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death.
    Tamai S; Tojo M; Kamimaki T; Sato Y; Nishimura G
    Am J Med Genet; 2002 Jan; 107(1):78-80. PubMed ID: 11807876
    [No Abstract]   [Full Text] [Related]  

  • 58. Raine syndrome associated with cytomegalovirus infection.
    Güneş T; Kurtoğlu S; Cetin N; Oztürk MA; Topaloğlu N
    Turk J Pediatr; 2005; 47(1):89-91. PubMed ID: 15884638
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions.
    Oldenburg MS; Frisch CD; Lindor NM; Edell ES; Kasperbauer JL; O'Brien EK
    Am J Otolaryngol; 2015; 36(5):636-41. PubMed ID: 25940662
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Atypical Fryns syndrome: clinical, radiological and pathological findings.
    Aygün MS; Sekmenli T; Çiftçi İ; Gökmen Z; Tolu İ; Mutlu-Aygün F
    Turk J Pediatr; 2014; 56(1):107-10. PubMed ID: 24827959
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.