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Items: 1 to 20 of 91

1.

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 1;139A(2):127-30.

PMID:
16278892
2.

The fifth female patient with Myhre syndrome: further delineation.

Becerra-Solano LE, Díaz-Rodriguez M, Nastasi-Catanese JA, Toscano-Flores JJ, Bañuelos-Robles O, Figuera LE, Matute E, de Lourdes Ramírez-Dueñas M.

Clin Dysmorphol. 2008 Apr;17(2):113-7. doi: 10.1097/MCD.0b013e3282f52828.

PMID:
18388781
3.

[Osteopoikilosis--skin and joint manifestations].

Colla F, Brühlmann P, Panizzon R, Michel BA.

Z Rheumatol. 1995 Mar-Apr;54(2):123-7. Review. German.

PMID:
7793159
4.

Severe constipation in a patient with Myhre syndrome: a case report.

Bassett JK, Douzgou S, Kerr B.

Clin Dysmorphol. 2016 Apr;25(2):54-7. doi: 10.1097/MCD.0000000000000109.

PMID:
26636501
5.

Second female case of Myhre syndrome.

Lopez-Cardona MG, Garcia-Cruz D, Garcia-Ortiz JE, Davalos NO, Feria-Velasco A, Rodriguez-Rojas LX, Garcia-Cruz MO, Figuera-Villanueva LE, Stephens A, Larios-Arceo F, Sanchez-Corona J.

Clin Dysmorphol. 2004 Apr;13(2):91-4.

PMID:
15057124
6.

The Myhre syndrome: report of two cases.

García-Cruz D, Figuera LE, Feria-Velazco A, Sánchez-Corona J, García-Cruz MO, Ramírez-Duenãs RM, Hernandez-Córdova A, Ruiz MX, Bitar-Alatorre WE, Ramírez-Dueñas ML, et al.

Clin Genet. 1993 Oct;44(4):203-7.

PMID:
8261650
7.

Buschke-Ollendorff syndrome: three generations in a Japanese family.

Kawamura A, Ochiai T, Tan-Kinoshita M, Suzuki H.

Pediatr Dermatol. 2005 Mar-Apr;22(2):133-7.

PMID:
15804302
8.

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME.

Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14.

PMID:
27302097
9.
10.

Weill-Marchesani syndrome: report of an unusual case.

Giordano N, Senesi M, Battisti E, Mattii G, Gennari C.

Calcif Tissue Int. 1997 Apr;60(4):358-60.

PMID:
9075633
11.

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
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: Clinical features and restrictive cardiopulmonary complications.

Starr LJ, Grange DK, Delaney JW, Yetman AT, Hammel JM, Sanmann JN, Perry DA, Schaefer GB, Olney AH.

Am J Med Genet A. 2015 Dec;167A(12):2893-901. doi: 10.1002/ajmg.a.37273. Epub 2015 Sep 30.

PMID:
26420300
14.

Buschke-Ollendorff syndrome--differential diagnosis of disseminated connective tissue lesions.

Assmann A, Mandt N, Geilen CC, Blume-Peytavi U.

Eur J Dermatol. 2001 Nov-Dec;11(6):576-9.

PMID:
11701413
15.

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS.

Hum Genet. 2016 May;135(5):525-40. doi: 10.1007/s00439-016-1660-z. Epub 2016 Mar 29.

PMID:
27023906
16.

Noonan-like/multiple giant cell lesion syndrome.

Cohen MM Jr, Gorlin RJ.

Am J Med Genet. 1991 Aug 1;40(2):159-66. Review.

PMID:
1897569
17.

Novel SMAD4 mutation causing Myhre syndrome.

Caputo V, Bocchinfuso G, Castori M, Traversa A, Pizzuti A, Stella L, Grammatico P, Tartaglia M.

Am J Med Genet A. 2014 Jul;164A(7):1835-40. doi: 10.1002/ajmg.a.36544. Epub 2014 Apr 8.

PMID:
24715504
18.

Median nerve compression in Weill-Marchesani syndrome.

Dellon AL, Trojak JE, Rochman GM.

Plast Reconstr Surg. 1984 Jul;74(1):127-30.

PMID:
6739588
19.

[Buschke-Ollendorff syndrome. Connective tissue nevi in osteopoikilosis].

Bonde CT, Vielfreund L.

Ugeskr Laeger. 2001 Jan 8;163(2):170-1. Danish.

PMID:
11379244
20.

Recurrent pericarditis in Myhre syndrome.

Picco P, Naselli A, Pala G, Marsciani A, Buoncompagni A, Martini A.

Am J Med Genet A. 2013 May;161A(5):1164-6. doi: 10.1002/ajmg.a.35892.

PMID:
23610053

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