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Items: 1 to 20 of 108

1.

Confirmation of existence of a new syndrome: LAPS syndrome.

Lindor NM, Kasperbauer JL, Hoffman AD, Parisi JE, Wang H, Warman M.

Am J Med Genet. 2002 Apr 22;109(2):93-9. Review.

PMID:
11977156
2.

Progressive laryngotracheal stenosis with short stature and arthropathy.

Hopkin RJ, Cotton R, Langer LO, Saal HM.

Am J Med Genet. 1998 Nov 16;80(3):241-6.

PMID:
9843046
3.

LAPS syndrome and Myhre syndrome: two disorders or one?

Lindor NM.

Am J Med Genet A. 2009 Feb 15;149A(4):798-9. doi: 10.1002/ajmg.a.32719. No abstract available.

PMID:
19267408
4.

Clinical features and respiratory complications in Myhre syndrome.

McGowan R, Gulati R, McHenry P, Cooke A, Butler S, Keng WT, Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J.

Eur J Med Genet. 2011 Nov-Dec;54(6):e553-9. doi: 10.1016/j.ejmg.2011.07.001. Epub 2011 Jul 21.

PMID:
21816239
6.

Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome.

García-Ortiz JE, Banda-Espinoza F, Zenteno JC, Galván-Uriarte LM, Ruiz-Flores P, García-Cruz D.

Am J Med Genet A. 2005 May 15;135(1):21-7.

PMID:
15809993
7.

Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.

ter Heide H, Bulstra SK, Reekers A, Schrander JJ, Schrander-Stumpel CT.

Am J Med Genet. 2002 Jul 15;110(4):359-64.

PMID:
12116210
8.

Case of Myhre syndrome with autism and peculiar skin histological findings.

Titomanlio L, Marzano MG, Rossi E, D'Armiento M, De Brasi D, Vega GR, Andreucci MV, Orsini AV, Santoro L, Sebastio G.

Am J Med Genet. 2001 Oct 1;103(2):163-5.

PMID:
11568925
9.

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 Sep-Oct;36(5):636-41. doi: 10.1016/j.amjoto.2015.04.005. Epub 2015 Apr 15.

PMID:
25940662
10.

Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy.

Wiltshire E, Wickremesekera A, Dixon J.

Am J Med Genet A. 2005 Jul 1;136(1):81-3.

PMID:
15889416
11.

Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

Selicorni A, Ferrarini A, Cagnoli G, Fratoni A, Bottigelli M, Milani D.

Am J Med Genet A. 2005 Jan 15;132A(2):189-90. Review.

PMID:
15578583
12.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V.

Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15. Erratum in: Eur J Hum Genet. 2014 Nov;22(11):1340.

13.

Myhre syndrome.

Le Goff C, Michot C, Cormier-Daire V.

Clin Genet. 2014 Jun;85(6):503-13. doi: 10.1111/cge.12365. Epub 2014 Apr 2. Review.

PMID:
24580733
14.

Improved canine model for laryngotracheal stenosis.

Eliashar R, Eliachar I, Gramlich T, Esclamado R, Strome M.

Otolaryngol Head Neck Surg. 2000 Jan;122(1):84-90.

PMID:
10629488
15.

Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.

Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I.

Am J Med Genet A. 2005 Sep 15;138(1):11-7.

PMID:
16097007
16.

Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: a new syndrome?

Mégarbané A, Rassi S, Estephan F, Kouba-Hreich E.

Am J Med Genet A. 2004 Feb 15;125A(1):57-60.

PMID:
14755467
17.

[Laryngotracheal stenosis in the adult].

Robillard T, Piquet JJ.

Acta Otorhinolaryngol Belg. 1984;38(2):198-207. French. No abstract available.

PMID:
6485771
18.

Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family.

Martínez-Frías ML, Toral JF, López-Grondona F, Mendioroz J, Bermejo E.

Am J Med Genet A. 2005 Sep 1;137A(3):288-91.

PMID:
16088912
19.

Hepatic fibrosis in Kabuki syndrome.

Nobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC.

Am J Med Genet A. 2004 Jan 15;124A(2):209-12.

PMID:
14699623
20.

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.

Verloes A, Hermia JP, Galand A, Koulischer L, Dodinval P.

Am J Med Genet. 1992 Sep 1;44(1):48-51.

PMID:
1519650

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