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Items: 1 to 20 of 88

1.

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Jones GE, Robertson L, Maniyar A, Shammas C, Phelan MM, Vasudevan PC, Tanteles GA.

Am J Med Genet A. 2016 Mar;170(3):754-9. doi: 10.1002/ajmg.a.37511. Epub 2016 Jan 5.

PMID:
26728615
2.

Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.

Bae GU, Domené S, Roessler E, Schachter K, Kang JS, Muenke M, Krauss RS.

Am J Hum Genet. 2011 Aug 12;89(2):231-40. doi: 10.1016/j.ajhg.2011.07.001. Epub 2011 Jul 28.

3.

Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions.

Siebert JR, Schoenecker KA, Resta RG, Kapur RP.

Am J Med Genet A. 2005 May 1;134(4):381-92. Review.

PMID:
15779021
4.

Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?

McPherson E, Huff D, Dunn J, Muenke M.

Birth Defects Res A Clin Mol Teratol. 2004 Aug;70(8):537-44. Review.

PMID:
15329833
5.

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome.

Bashamboo A, Bignon-Topalovic J, Rouba H, McElreavey K, Brauner R.

J Clin Endocrinol Metab. 2016 Jan;101(1):12-5. doi: 10.1210/jc.2015-2995. Epub 2015 Nov 3.

PMID:
26529631
6.

Steinfeld syndrome: Further delineation.

Stevens CA.

Am J Med Genet A. 2010 Jul;152A(7):1789-92. doi: 10.1002/ajmg.a.33440.

PMID:
20583155
7.

Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder.

Nöthen MM, Knöpfle G, Födisch HJ, Zerres K.

Am J Med Genet. 1993 Jun 1;46(4):467-70.

PMID:
8357025
8.
9.

Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.

Takenouchi T, Okuno H, Kosaki R, Ariyasu D, Torii C, Momoshima S, Harada N, Yoshihashi H, Takahashi T, Awazu M, Kosaki K.

Am J Med Genet A. 2012 Oct;158A(10):2537-41. doi: 10.1002/ajmg.a.35465. Epub 2012 Aug 10.

PMID:
22887648
10.

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Patel C, Silcock L, McMullan D, Brueton L, Cox H.

Eur J Hum Genet. 2012 Aug;20(8):863-9. doi: 10.1038/ejhg.2012.16. Epub 2012 Feb 15.

11.

Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

So J, Stockley T, Stavropoulos DJ.

Am J Med Genet A. 2014 Feb;164A(2):511-5. doi: 10.1002/ajmg.a.36292. Epub 2013 Dec 5.

PMID:
24311471
12.

Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects.

Yi Z, Yingjun X, Yongzhen C, Liangying Z, Meijiao S, Baojiang C.

Gene. 2014 Jan 10;533(2):565-9. doi: 10.1016/j.gene.2013.09.027. Epub 2013 Oct 1.

PMID:
24091065
13.

A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis.

Ribeiro LA, Bertolacini CD, Quiezi RG, Richieri-Costa A.

Clin Dysmorphol. 2011 Jul;20(3):160-2. doi: 10.1097/MCD.0b013e32834116ae.

PMID:
21368660
14.

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M.

Hum Mol Genet. 1999 Dec;8(13):2479-88.

PMID:
10556296
15.

Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.

Hong M, Krauss RS.

PLoS One. 2013 Nov 11;8(11):e79269. doi: 10.1371/journal.pone.0079269. eCollection 2013.

16.

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.

Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN, Babovic-Vuksanovic D.

Am J Med Genet A. 2014 Sep;164A(9):2356-9. doi: 10.1002/ajmg.a.36621. Epub 2014 May 28.

PMID:
24888332
17.

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
18.

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.

Kevelam SH, van Harssel JJ, van der Zwaag B, Smeets HJ, Paulussen AD, Lichtenbelt KD.

Am J Med Genet A. 2012 Jan;158A(1):166-73. doi: 10.1002/ajmg.a.34350. Epub 2011 Nov 21.

PMID:
22106008
19.

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.

Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K.

Am J Med Genet A. 2007 Nov 15;143A(22):2712-5.

PMID:
17937444
20.

Homozygous N540K hypochondroplasia--first report: radiological and clinical features.

De Rosa ML, Fano V, Araoz HV, Chertkoff L, Obregon MG.

Am J Med Genet A. 2014 Jul;164A(7):1784-8. doi: 10.1002/ajmg.a.36504. Epub 2014 Apr 8.

PMID:
24715719

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