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Items: 1 to 20 of 176

1.

Tel Hashomer camptodactyly syndrome: report of a case with myopathic features.

Patton MA, McDermot KD, Lake BD, Baraitser M.

J Med Genet. 1986 Jun;23(3):268-71.

2.
3.

The Tel Hashomer camptodactyly syndrome: report of a new case and review of the literature.

Pagnan NA, Gollop TR, Lederman H.

Am J Med Genet. 1988 Feb;29(2):411-7. Review.

PMID:
3281460
4.

Three new cases of Tel Hashomer camptodactyly syndrome in one Arabic family.

Tylki-Szymanska A.

Am J Med Genet. 1986 Mar;23(3):759-63.

PMID:
3953674
5.

Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

Vanĕk J, Janda J, Amblerová V, Losan F.

J Med Genet. 1986 Jun;23(3):231-6.

6.

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):205-8. Epub 2007 Aug 13.

PMID:
17698502
7.

Genetics of congenital nemaline myopathy: a study of 10 families.

Wallgren-Pettersson C, Kääriäinen H, Rapola J, Salmi T, Jääskeläinen J, Donner M.

J Med Genet. 1990 Aug;27(8):480-7.

8.

The Tel Hashomer camptodactyly syndrome in a consanguineous Brazilian family.

Gollop TR, Colletto GM.

Am J Med Genet. 1984 Feb;17(2):399-406.

PMID:
6702893
9.

Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease.

Franceschini P, Vardeu MP, Signorile F, Testa A, Guala A, Franceschini D, Dalforno L.

Am J Med Genet. 1993 May 15;46(3):341-4. Review.

PMID:
8488882
10.

Familial "myotubular" myopathy.

van Wijngaarden GK, Fleury P, Bethlem J, Meijer AE.

Neurology. 1969 Sep;19(9):901-8. No abstract available.

PMID:
5816884
11.

The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature.

Wijerathne BT, Meier RJ, Agampodi SB.

J Med Case Rep. 2016 Sep 20;10(1):258. doi: 10.1186/s13256-016-1048-7. Review.

12.
13.

Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy.

Swash M, Schwartz MS, Carter ND, Heath R, Leak M, Rogers KL.

Brain. 1983 Sep;106 (Pt 3):717-33.

PMID:
6685553
14.

The King syndrome: malignant hyperthermia, myopathy, and multiple anomalies.

McPherson EW, Taylor CA Jr.

Am J Med Genet. 1981;8(2):159-65.

PMID:
7282770
15.

Toxic myopathies: muscle biopsy features.

Scola RH, Pereira ER, Lorenzoni PJ, Werneck LC.

Arq Neuropsiquiatr. 2007 Mar;65(1):82-6.

16.

Cytoplasmic body myopathy. Report on a family and review of the literature.

Patel H, Berry K, MacLeod P, Dunn HG.

J Neurol Sci. 1983 Aug;60(2):281-92.

PMID:
6886734
17.

Central core disease or not? Observations on a family with a non-progressive myopathy.

Morgan-Hughes JA, Brett EM, Lake BD, Tomé FM.

Brain. 1973 Sep;96(3):527-36. No abstract available.

PMID:
4743931
18.

King syndrome: further clinical variability and review of the literature.

Graham GE, Silver K, Arlet V, Der Kaloustian VM.

Am J Med Genet. 1998 Jul 7;78(3):254-9. Review.

PMID:
9677061
19.

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.

Brain. 2007 Dec;130(Pt 12):3250-64. Review.

PMID:
18055494
20.

Tel Hashomer camptodactyly syndrome: a case report.

Shah K, Sreekanth R, Thomas B, Danda S.

West Indian Med J. 2013 Jan;62(1):81-3.

PMID:
24171333

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