H. Kokkonen

发表

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

I. Miinalainen, M. Rämet, Meri I E Uusi-Mäkelä, 2018, Acta Neuropathologica.

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

L. Aaltonen, A. Palotie, M. Kurki, 2019, Genetics in Medicine.

Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations.

R. Riikonen, H. Kokkonen, T. Wallden, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

H. Kokkonen, K. Rapakko, J. Leisti, 2004, American journal of medical genetics. Part A.

Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

D. J. Driscoll, T. Ohta, B. Horsthemke, 1999, American journal of human genetics.

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

J. Lupski, S. Leal, S. Jhangiani, 2021, Human Genetics.

MYELOID NEOPLASIA Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunode ﬁ ciency, MDS, and neurological symptoms

T. Fioretos, H. Qian, C. Pronk, 2017 .

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

H. Kokkonen, J. Leisti, 2000, Human Genetics.

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

T. Fioretos, L. Nilsson, H. Qian, 2017, Blood.

Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation.

S. Knuutila, Linda M. Forsström, J. Ignatius, 2013, European journal of medical genetics.

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor β3 subunit deletions

K. Någren, R. Parkkola, I. Holopainen, 2001, Annals of neurology.

Genetic changes of chromosome region 15q11-q13 in Prader-Willi and Angelman syndromes in Finland

H. Kokkonen, 2003 .

Loss of DIAPH1 causes SCBMS, combined immunodeficiency and mitochondrial dysfunction.

V. Pietiäinen, Shen-Ying Zhang, T. Tapiainen, 2021, The Journal of allergy and clinical immunology.

Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

R. Horvath, A. Lehesjoki, J. Uusimaa, 2020, Clinical genetics.

Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family.

R. Winqvist, K. Pylkäs, P. Hirvikoski, 2011, Cancer letters.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss

J. Majewski, J. Ignatius, K. Vuopala, 2018, Clinical genetics.

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

S. Leal, I. Järvelä, A. Sirén, 2021, Molecular genetics & genomic medicine.

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

D. Bonthron, O. Howes, N. Brandon, 2016, American journal of human genetics.

A molecular and cytogenetic study in Finnish Prader-Willi patients

M. Kähkönen, H. Kokkonen, J. Leisti, 1995, Human Genetics.

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

I. Miinalainen, K. Pylkäs, J. Nadaf, 2023, Clinical genetics.

COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes.

J. Schleutker, P. Hartikainen, M. Pöyhönen, 2021, Stroke.