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Items: 1 to 20 of 527

1.

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
2.

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
3.

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
4.

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
5.

Hunter-McAlpine syndrome: report of a third family.

Adès LC, Morris LL, Simpson DA, Haan EA.

Clin Dysmorphol. 1993 Apr;2(2):123-30.

PMID:
8281273
6.

A new case of Myhre syndrome.

Whiteford ML, Doig WB, Raine PA, Hollman AS, Tolmie JL.

Clin Dysmorphol. 2001 Apr;10(2):135-40. Review.

PMID:
11310994
7.

Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile.

Lanzi G, Termine C, Capsoni C, Zoppello M, Sacchi SA, Danesino C.

Clin Dysmorphol. 2005 Apr;14(2):105-7.

PMID:
15770135
8.

Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome.

Dallapiccola B, Digilio MC, Zatterale A, Galeone R, Capolino R, Mingarelli R.

Clin Dysmorphol. 2009 Jul;18(3):135-8. doi: 10.1097/MCD.0b013e32832a9e78.

PMID:
19373080
9.

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.

Chen H, Immken L, Lachman R, Yang S, Rimoin DL, Rightmire D, Eteson D, Stewart F, Beemer FA, Opitz JM, et al.

Am J Med Genet. 1984 Apr;17(4):809-26.

PMID:
6720746
10.

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies.

Herrmann J, Pallister PD, Tiddy W, Opitz JM.

Birth Defects Orig Artic Ser. 1975;11(5):7-18. No abstract available.

PMID:
1218237
11.

Short stature, craniofacial dysmorphism and dento-skeletal abnormalities in a large kindred. A variant of K.B.G. syndrome or a new mental retardation syndrome.

Parloir C, Fryns JP, Deroover J, Lebas E, Goffaux P, van den Berghe H.

Clin Genet. 1977 Nov;12(5):263-6.

PMID:
589847
13.
14.

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

Rabe P, Haverkamp F, Emons D, Rosskamp R, Zerres K, Passarge E.

Am J Med Genet. 1991 Dec 1;41(3):350-4.

PMID:
1724113
15.

[A case of Schwartz syndrome (author's transl)].

Duarte L, da Costa MG, Aguas AP, Ferreira NC.

An Esp Pediatr. 1980 Nov;13(11):1023-30. Spanish.

PMID:
7212464
16.
17.

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B.

Orphanet J Rare Dis. 2006 Dec 12;1:50. Review.

18.

Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?

Thompson EM, Winter RM, Baraitser M.

Clin Dysmorphol. 1993 Oct;2(4):301-16.

PMID:
7508317
19.

Tetrasomy 9p confirmed by GALT.

Balestrazzi P, Croci G, Frassi C, Franchi F, Giovannelli G.

J Med Genet. 1983 Oct;20(5):396-9.

20.

Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.

Manci EA, Martinez JE, Horenstein MG, Gardner TM, Ahmed A, Mancao MC, Gremse DA, Gardner DM, Nimityongskul P, Maertens P, Riddick L, Kavamura MI.

Am J Med Genet A. 2005 Aug 15;137(1):1-8.

PMID:
16007634
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