M Peippo
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Explore the profile of M Peippo including associated specialties, affiliations and a list of published articles.
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16
Citations
189
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Recent Articles
1.
Peippo M, Ignatius J
Mol Syndromol
. 2012 Jun;
2(3-5):171-180.
PMID: 22670138
Pitt-Hopkins syndrome (PTHS, MIM #610954) is characterized by severe intellectual disability, typical facial features and tendency to epilepsy, panting-and-holding breathing anomaly, stereotypic movements, constipation, and high myopia. Growth is normal...
2.
Zweier C, Sticht H, Bijlsma E, Clayton-Smith J, Boonen S, Fryer A, et al.
J Med Genet
. 2008 Aug;
45(11):738-44.
PMID: 18728071
Background: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an underdiagnosed mental-retardation syndrome characterised by a distinct...
3.
Peippo M, Tengstrom C, Arvio M, Valanne L, Oksanen V, Kaakkola S, et al.
Genet Couns
. 2004 Nov;
15(3):341-6.
PMID: 15517827
We describe a 22-year-old woman with a de novo paracentric inversion of the long arm of chromosome 14 with breakpoints at q13 and q24 and associated with epilepsy, dysarthria and...
4.
Jalkanen R, Demirci F, Tyynismaa H, Bech-Hansen T, Meindl A, Peippo M, et al.
J Med Genet
. 2003 Jun;
40(6):418-23.
PMID: 12807962
X linked progressive cone-rod dystrophy (COD) is a retinal disease primarily affecting the cone photoreceptors. The disease is genetically heterogeneous and two loci, COD1 (Xp21.1-11.4) and COD2 (Xq27.2-28), have been...
5.
Malm H, Kajantie E, Kivirikko S, Kaariainen H, Peippo M, Somer M
Neurology
. 2002 Aug;
59(4):630-3.
PMID: 12196666
The fetal valproate syndrome (FVS) is characterized by distinctive facial appearance, major and minor malformations, and developmental delay. Generally, only a small proportion of prenatally exposed children are affected. The...
6.
Eronen M, Peippo M, Hiippala A, Raatikka M, Arvio M, Johansson R, et al.
J Med Genet
. 2002 Aug;
39(8):554-8.
PMID: 12161592
Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of...
7.
Peippo M, Hiippala A, Raatikka M, Westerlund A, Johansson R, Arvio M, et al.
Duodecim
. 2002 Jul;
117(5):505-12.
PMID: 12116777
No abstract available.
8.
Arvio M, Laiho K, Kauppi M, Peippo M, Leino P, Kautiainen H, et al.
Ann Rheum Dis
. 2002 Jan;
61(2):180-1.
PMID: 11796409
Objective: To ascertain whether being a carrier of an autosomal recessive disease, aspartylglucosaminuria (AGU), predisposes to chronic arthritis, as does AGU disease. Methods: A group of 173 unrelated patients with...
9.
Mantyjarvi M, Nurmenniemi P, Partanen J, Myohanen T, Peippo M, Alitalo T
Acta Ophthalmol Scand
. 2001 Jul;
79(4):359-65.
PMID: 11453854
Purpose: To study a large family with X-linked progressive cone-rod dystrophy. Methods: There were 128 members in the family. Of these, 45 had an ophthalmological examination and 3 gave their...
10.
Arvio M, Peippo M
J Pediatr
. 2001 Feb;
138(2):288-90.
PMID: 11174635
We describe the state of health, intellectual skills, and dysmorphic features of 19 young patients with aspartylglucosaminuria. Of them, 5 had undergone a successful bone marrow transplantation between 1991 and...