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Works (31)

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Genome medicine
2024-05-30 | Journal article
DOI: 10.1186/s13073-024-01339-y
PMID: 38811945
PMC: PMC11137988
Contributors: Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Abou Jamra R et al.
Source: Self-asserted source
Maria K Haanpää

Comparison of the ABC and ACMG systems for variant classification.

European journal of human genetics : EJHG
2024-05-22 | Journal article | Author
DOI: 10.1038/s41431-024-01617-8
PMID: 38778080
Contributors: Gunnar Houge; Bratland E; Aukrust I; Kristian Tveten; Gabrielė Žukauskaitė; Ivona Sansović; Alejandro Brea-Fernández; Mayer K; Teija Paakkola; McKenna C et al.
Source: Self-asserted source
Maria K Haanpää

Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.

Acta ophthalmologica
2024-05-05 | Journal article
DOI: 10.1111/aos.16701
PMID: 38706142
Contributors: Lähteenoja L; Palosaari T; Tiirikka T; Haanpää M; Jukka Moilanen; Falck A; Elisa Rahikkala
Source: Self-asserted source
Maria K Haanpää

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.

American journal of medical genetics. Part A
2024-02-06 | Journal article
DOI: 10.1002/ajmg.a.63534
PMID: 38318947
Contributors: Ferruccio Romano; Haanpää MK; Pomianowski P; Peraino AR; Pollard JR; Maria Francesca Di Feo; Monica Traverso; Severino M; Derchi M; Henzen E et al.
Source: Self-asserted source
Maria K Haanpää

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Epilepsia
2023-12-22 | Journal article
DOI: 10.1111/epi.17876
PMID: 38135915
Contributors: Kassabian B; Amanda Levy; Elena Gardella; Angel Aledo-Serrano; Ananth AL; Brea-Fernández AJ; Caumes R; Chatron N; ALICE DAINELLI; De Wachter M et al.
Source: Self-asserted source
Maria K Haanpää

Report of a Novel Homozygous Intragenic <i>DCC</i> Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.

Molecular syndromology
2023-12-04 | Journal article
DOI: 10.1159/000534772
PMID: 38585553
Contributors: Rahikkala E; Väisänen T; Ojala L; Pohjola P; Toivonen M; Parkkola R; Haanpää MK
Source: Self-asserted source
Maria K Haanpää

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2023-11-19 | Journal article
DOI: 10.1177/10935266231210155
PMID: 37981638
Contributors: Sini Keskinen; Paakkola T; Mirjami Mattila; Hietala M; Koillinen H; Laine J; Haanpää MK
Source: Self-asserted source
Maria K Haanpää

Jansen de Vries syndrome: Report of four new patients and review of the literature.

European journal of medical genetics
2023-06-28 | Journal article
DOI: 10.1016/j.ejmg.2023.104807
PMID: 37385405
Contributors: Tuiskula A; Rahikkala E; Kero A; Haanpää MK; Avela K
Source: Self-asserted source
Maria K Haanpää

<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individuals.

Frontiers in cell and developmental biology
2023-01-16 | Journal article
DOI: 10.3389/fcell.2022.1020609
PMID: 36726590
PMC: PMC9886139
Contributors: Kampmeier A; Leitão E; Ilaria Parenti; Beygo J; Depienne C; Bramswig NC; Hsieh TC; Afenjar A; Beck-Wödl S; Grasshoff U et al.
Source: Self-asserted source
Maria K Haanpää

Natural history of KBG syndrome in a large European cohort.

Human molecular genetics
2022-12-01 | Journal article
DOI: 10.1093/hmg/ddac167
PMID: 35861666
PMC: PMC9759332
Contributors: Loberti L; Bruno LP; Granata S; Doddato G; Resciniti S; Fava F; Carullo M; Rahikkala E; Jouret G; Menke LA et al.
Source: Self-asserted source
Maria K Haanpää

Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome.

European journal of medical genetics
2022-09-22 | Journal article
DOI: 10.1016/j.ejmg.2022.104626
PMID: 36155125
Contributors: Kjell Helenius; Parkkola R; Arola A; Peltola V; Haanpää MK
Source: Self-asserted source
Maria K Haanpää

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic <i>TMC1</i> Variants

Journal of Clinical Medicine
2022-03 | Journal article | Author
DOI: 10.3390/jcm11071837
Contributors: Minna Kraatari-Tiri; Maria K Haanpää; Tytti Willberg; Pia Pohjola; Riikka Keski-Filppula; Outi Kuismin; Jukka S. Moilanen; Sanna Häkli; Elisa Rahikkala
Source: check_circle
Multidisciplinary Digital Publishing Institute

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.

Genetics in medicine : official journal of the American College of Medical Genetics
2021-11-30 | Journal article
DOI: 10.1016/j.gim.2021.10.009
PMID: 34906501
Source: Self-asserted source
Maria K Haanpää

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.

Journal of inherited metabolic disease
2021-11-11 | Journal article
DOI: 10.1002/jimd.12446
PMID: 34622459
Source: Self-asserted source
Maria K Haanpää

Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe.

European journal of medical genetics
2021-10-01 | Journal article
DOI: 10.1016/j.ejmg.2021.104350
PMID: 34606975
Source: Self-asserted source
Maria K Haanpää

Report of a novel missense mutation in the <i>MECP2</i> gene in a middle-aged man with intellectual disability syndrome.

Clinical case reports
2021-08-21 | Journal article
DOI: 10.1002/ccr3.4602
PMID: 34457282
PMC: PMC8380086
Source: Self-asserted source
Maria K Haanpää

Severe ulcerative proctitis, pyoderma gangrenosum, hidradenitis suppurativa and fever in a patient with a rare variant of the PSTPIP1 gene.

Clinical and experimental dermatology
2021-07-17 | Journal article
DOI: 10.1111/ced.14754
PMID: 34273117
Source: Self-asserted source
Maria K Haanpää

An <i>ARHGAP25</i> variant links aberrant Rac1 function to early-onset skeletal fragility.

JBMR plus
2021-06-07 | Journal article
DOI: 10.1002/jbm4.10509
PMID: 34258505
PMC: PMC8260816
Source: Self-asserted source
Maria K Haanpää

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4.

Frontiers in endocrinology
2021-05-21 | Journal article
DOI: 10.3389/fendo.2021.658137
PMID: 34093435
PMC: PMC8176851
Source: Self-asserted source
Maria K Haanpää

Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.

American journal of medical genetics. Part A
2021-04-29 | Journal article
DOI: 10.1002/ajmg.a.62202
PMID: 33913595
Source: Self-asserted source
Maria K Haanpää

Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB).

American journal of medical genetics. Part A
2019-10-03 | Journal article
DOI: 10.1002/ajmg.a.61369
PMID: 31580529
Source: Self-asserted source
Maria K Haanpää

Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study.

Molecular genetics & genomic medicine
2019-08-14 | Journal article
DOI: 10.1002/mgg3.930
PMID: 31411008
PMC: PMC6785458
Source: Self-asserted source
Maria K Haanpää

High-Resolution Bisulfite-Sequencing of Peripheral Blood DNA Methylation in Early-Onset and Familial Risk Breast Cancer Patients.

Clinical cancer research : an official journal of the American Association for Cancer Research
2019-06-07 | Journal article
DOI: 10.1158/1078-0432.ccr-18-2423
PMID: 31175093
PMC: PMC6726519
Source: Self-asserted source
Maria K Haanpää

ALG11-CDG syndrome: Expanding the phenotype.

American journal of medical genetics. Part A
2019-01-24 | Journal article
DOI: 10.1002/ajmg.a.61046
PMID: 30676690
PMC: PMC6426632
Source: Self-asserted source
Maria K Haanpää

Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

American journal of medical genetics. Part A
2017-03-03 | Journal article
DOI: 10.1002/ajmg.a.38131
PMID: 28256057
Source: Self-asserted source
Maria K Haanpää

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2016-04-25 | Journal article
DOI: 10.1002/jbmr.2841
PMID: 27005318
Source: Self-asserted source
Maria K Haanpää

Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.

Clinical genetics
2014-07-30 | Journal article
DOI: 10.1111/cge.12447
PMID: 24989076
Source: Self-asserted source
Maria K Haanpää

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.

BMC medical genetics
2013-08-13 | Journal article
DOI: 10.1186/1471-2350-14-82
PMID: 23941127
PMC: PMC3751431
Source: Self-asserted source
Maria K Haanpää

Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.

Breast cancer research and treatment
2011-07-13 | Journal article
DOI: 10.1007/s10549-011-1677-x
PMID: 21750962
Source: Self-asserted source
Maria K Haanpää

Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families.

Journal of human genetics
2010-09-16 | Journal article
DOI: 10.1038/jhg.2010.112
PMID: 20844547
Source: Self-asserted source
Maria K Haanpää

Mutation analysis of the AATF gene in breast cancer families.

BMC cancer
2009-12-21 | Journal article
DOI: 10.1186/1471-2407-9-457
PMID: 20025740
PMC: PMC2806411
Source: Self-asserted source
Maria K Haanpää
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