Výsledky vyhledávání - "Maarit Peippo"

Translation of a Research-Based Genetic Test on a Rare Syndrome into Clinical Service Testing, with Sotos Syndrome As an Example

Autor: Pia Pohjola, Maila Penttinen, Helena Kääriäinen, Klaus Elenius, Maarit Peippo

Publikováno v: Genetic Testing and Molecular Biomarkers; Vol 16

It is often the case that the genetic background of a rare disease has been solved, but the testing of a clinical patient can be performed only through research projects. Translating a research-based test into diagnostic service may also appear labor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65cfd2f98b5ec1ed53d0c653887ba13c

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Pitt-Hopkins Syndrome

Autor: Jaakko Ignatius, Maarit Peippo

Publikováno v: Molecular Syndromology. 2:171-180

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 nor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe03fadf25b3eaccb256d20cfe9184cb
https://doi.org/10.1159/000335287

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Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Publikováno v: The American Journal of Human Genetics. 83(1):106-111

Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f5c8785609bc173c596be5c3a450ef8

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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

Publikováno v: American Journal of Human Genetics, 82, 432-43
American Journal of Human Genetics, 82, 2, pp. 432-43
American Journal of Human Genetics, 82(2), 432-443. CELL PRESS

Contains fulltext : 70916.pdf (Publisher’s version ) (Closed access) Submicroscopic copy-number imbalances contribute significantly to the genetic etiology of human disease. Here, we report a novel microduplication hot spot at Xp11.22 identified in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34485d28c0b4059a63124bf28d28a386
https://hdl.handle.net/11370/b8645c70-d3c2-4502-8317-9a0aeffb011a

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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Publikováno v: American journal of human genetics, 80(5), 994-1001. Cell Press

Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation. By molecular karyotyping with GeneChip Human Mapping 100K SNP arrays, we detected a 1.2

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Pitt–Hopkins syndrome in two patients and further definition of the phenotype

Autor: Kalle O.J. Simola, Mari P Auranen, Leena Valanne, Andreo T Larsen, Marketta Kähkönen, Jaakko Ignatius, Maarit Peippo

Publikováno v: Clinical Dysmorphology. 15:47-54

Pitt-Hopkins syndrome is a rare dysmorphic mental retardation syndrome marked by daytime spells of overbreathing interrupted by apnoea. The dysmorphism consists of a large beaked nose, cup-shaped ears with broad helices, a wide mouth, Cupid's bow upp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff15e7479102618204784810d26d3d85
https://doi.org/10.1097/01.mcd.0000184973.14775.32

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Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females

Autor: Marketta Kähkönen, Kirsti E Kuokkanen, Helena Kääriäinen, Leena Valanne, Minna Pöyhönen, Susanna M Koskela, Sasan Rasi, Oliver Bartsch, Maarit Peippo, Glenis J Wiebe

Publikováno v: Clinical Dysmorphology. 13:85-90

We report three unrelated patients with hypertrichosis, mild to moderate mental retardation, and dysmorphic facial features including low anterior hairline, thick arched eyebrows, nose with broad tip and columella below alae nasi, short philtrum, thi

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https://doi.org/10.1097/00019605-200404000-00006

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Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome

Autor: Leena Valanne, Maria Arvio, Kimmo Sainio, Virpi E Oksanen, Maarit Peippo

Publikováno v: Pediatric Neurology. 30:67-70

Kabuki syndrome is a rare dysmorphogenic disorder. The central nervous system is often involved, and epilepsy is a common symptom. The diagnosis is clinical, and no typical electroencephalographic findings have thus far been reported. We have documen

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https://doi.org/10.1016/s0887-8994(03)00419-3

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