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Results: 1 to 20 of 1008

Select item 233429751.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A.

BMC Med Genet. 2013 Jan 24;14:13. doi: 10.1186/1471-2350-14-13.

PMID:: 23342975; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 233072232.

Rhegmatogenous retinal detachment and bilateral optic disc coloboma in organoid nevus syndrome.

Arevalo JF, Lasave AF, Arevalo FA, Shields JA.

JAMA Ophthalmol. 2013 Jan;131(1):111-3. doi: 10.1001/jamaophthalmol.2013.573. No abstract available.

PMID:: 23307223; [PubMed - indexed for MEDLINE]

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Select item 232400583.

Cadherin-mediated cell adhesion is critical for the closing of the mouse optic fissure.

Chen S, Lewis B, Moran A, Xie T.

PLoS One. 2012;7(12):e51705. doi: 10.1371/journal.pone.0051705. Epub 2012 Dec 11.

PMID:: 23240058; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 232155584.

Clinical diagnosis by whole-genome sequencing of a prenatal sample.

Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC.

N Engl J Med. 2012 Dec 6;367(23):2226-32. doi: 10.1056/NEJMoa1208594.

PMID:: 23215558; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 231876395.

CHARGE syndrome: diagnosis and clinical management in the NICU.

Allen T.

Adv Neonatal Care. 2012 Dec;12(6):336-42; quiz 343-4. doi: 10.1097/ANC.0b013e318276c320.

PMID:: 23187639; [PubMed - indexed for MEDLINE]

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Select item 231075796.

Lesions simulating retinoblastoma (pseudoretinoblastoma) in 604 cases: results based on age at presentation.

Shields CL, Schoenberg E, Kocher K, Shukla SY, Kaliki S, Shields JA.

Ophthalmology. 2013 Feb;120(2):311-6. doi: 10.1016/j.ophtha.2012.07.067. Epub 2012 Oct 27.

PMID:: 23107579; [PubMed - indexed for MEDLINE]

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Select item 230642977.

Surgical treatment of upper eyelid coloboma: our experience.

Chiummariello S, Angelisanti M, Arleo S, Alfano C.

Ann Ital Chir. 2012 Sep-Oct;83(5):379-83.

PMID:: 23064297; [PubMed - indexed for MEDLINE]

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Select item 230504098.

Congenital upper eyelid coloboma with ipsilateral eyebrow hypoplasia.

Vulović D, Novaković M, Sarenac T, Janićijević-Petrović M, Petrović N, Srećković S, Milićević S, Piscević B.

Vojnosanit Pregl. 2012 Sep;69(9):809-11.

PMID:: 23050409; [PubMed - indexed for MEDLINE]

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Select item 229304849.

Cochlear nerve deficiency in children with CHARGE syndrome.

Holcomb MA, Rumboldt Z, White DR.

Laryngoscope. 2013 Mar;123(3):793-6. doi: 10.1002/lary.23682. Epub 2012 Aug 28.

PMID:: 22930484; [PubMed - indexed for MEDLINE]

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Select item 2292945710.

Bilateral maculopathy associated with Pierre Robin sequence.

Witmer MT, Vasan R, Levy R, Davis J, Chan RV.

J AAPOS. 2012 Aug;16(4):409-10. doi: 10.1016/j.jaapos.2012.05.004.

PMID:: 22929457; [PubMed - indexed for MEDLINE]

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Select item 2289308111.

Ectopic cerebrospinal-like fluid from retrobulbar cysts as a possible cause of pediatric retinal detachment associated with optic disc coloboma: new implications for management.

Patel CK, Berg SJ, Quaghebeur G, Richards P, Kamalden TA, Brennan R, Elliot A, Kafil-Hussain N, Williams C, Worthington V.

Arch Ophthalmol. 2012 Aug;130(8):1065-7. doi: 10.1001/archophthalmol.2012.516. No abstract available.

PMID:: 22893081; [PubMed - indexed for MEDLINE]

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Select item 2288385112.

RE: On a retinochoroidal coloboma.

Maka E, Knezy K.

Can J Ophthalmol. 2012 Aug;47(4):385; author reply 385. doi: 10.1016/j.jcjo.2012.04.010. Epub 2012 May 30. No abstract available.

PMID:: 22883851; [PubMed - indexed for MEDLINE]

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Select item 2276660913.

Homozygous null mutation in ODZ3 causes microphthalmia in humans.

Aldahmesh MA, Mohammed JY, Al-Hazzaa S, Alkuraya FS.

Genet Med. 2012 Nov;14(11):900-4. doi: 10.1038/gim.2012.71. Epub 2012 Jul 5.

PMID:: 22766609; [PubMed - indexed for MEDLINE]

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Select item 2270735614.

Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals.

Zatz M, Pavanello Rde C, Lourenço NC, Cerqueira A, Lazar M, Vainzof M.

Neuromolecular Med. 2012 Dec;14(4):281-4. doi: 10.1007/s12017-012-8186-x. Epub 2012 Jun 16.

PMID:: 22707356; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2266095615.

Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.

Iatropoulos P, Daina E, Mele C, Maranta R, Remuzzi G, Noris M.

Pediatr Nephrol. 2012 Oct;27(10):1989-93. doi: 10.1007/s00467-012-2205-x. Epub 2012 Jun 4.

PMID:: 22660956; [PubMed - indexed for MEDLINE]

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Select item 2265848316.

The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline.

Jiang X, Zhou Y, Xian L, Chen W, Wu H, Gao X.

Am J Pathol. 2012 Aug;181(2):626-41. doi: 10.1016/j.ajpath.2012.05.006. Epub 2012 May 29.

PMID:: 22658483; [PubMed - indexed for MEDLINE]

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Select item 2258178517.

14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.

Piccione M, Serra G, Consiglio V, Di Fiore A, Cavani S, Grasso M, Malacarne M, Pierluigi M, Viaggi C, Corsello G.

Am J Med Genet A. 2012 Jun;158A(6):1427-33. doi: 10.1002/ajmg.a.35334. Epub 2012 May 11.

PMID:: 22581785; [PubMed - indexed for MEDLINE]

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Select item 2258147518.

Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.

Laimutis K, Jackson C, Xu X, Warman B, Sarunas R, Andriuskeviciute I, Birute P, Schimmenti LA, Raca G.

Am J Med Genet A. 2012 Jun;158A(6):1437-41. doi: 10.1002/ajmg.a.35342. Epub 2012 May 11.

PMID:: 22581475; [PubMed - indexed for MEDLINE]

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Select item 2254213919.

Understanding obstructive sleep apnea in children with CHARGE syndrome.

Trider CL, Corsten G, Morrison D, Hefner M, Davenport S, Blake K.

Int J Pediatr Otorhinolaryngol. 2012 Jul;76(7):947-53. doi: 10.1016/j.ijporl.2012.02.061. Epub 2012 Apr 25.

PMID:: 22542139; [PubMed - indexed for MEDLINE]

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Select item 2251748620.

Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.

Colin E, Bonneau D, Boussion F, Guichet A, Delorme B, Triau S, Gillard P, Kitzis A, Bilan F.

Prenat Diagn. 2012 Jul;32(7):692-4. doi: 10.1002/pd.3876. Epub 2012 Apr 20.

PMID:: 22517486; [PubMed - indexed for MEDLINE]

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137 free full-text articles in PubMed Central

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. [BMC Med Genet. 2013]
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.
Jamsheer A, Sowińska A, Simon D, Jamsheer-Bratkowska M, Trzeciak T, Latos-Bieleńska A. BMC Med Genet. 2013 Jan 24; 14:13. Epub 2013 Jan 24.
Cadherin-mediated cell adhesion is critical for the closing of the mouse optic fissure. [PLoS One. 2012]
Cadherin-mediated cell adhesion is critical for the closing of the mouse optic fissure.
Chen S, Lewis B, Moran A, Xie T. PLoS One. 2012; 7(12):e51705. Epub 2012 Dec 11.
Clinical diagnosis by whole-genome sequencing of a prenatal sample. [N Engl J Med. 2012]
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, et al. N Engl J Med. 2012 Dec 6; 367(23):2226-32.