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1. Full Text Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy
by Reinson, Karit and Õiglane‐Shlik, Eve and Talvik, Inga and Vaher, Ulvi and Õunapuu, Anne and Ennok, Margus and Teek, Rita and Pajusalu, Sander and Murumets, Ülle and Tomberg, Tiiu and Puusepp, Sanna and Piirsoo, Andres and Reimand, Tiia and Õunap, Katrin
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2016, Volume 170, Issue 8, pp. 2173 - 2176
The CACNA1A gene encodes the transmembrane pore‐forming alpha‐1A subunit of the Cav2.1 P/Q‐type voltage‐gated calcium channel. Several heterozygous mutations... 
early onset epileptic encephalopathy | Biallelic CACNA1A gene mutations | cerebral and cerebellar atrophy | muscular hypotonia | optic nerve atrophy | HEMIPLEGIC MIGRAINE | VARIANTS | EPISODIC ATAXIA TYPE-2 | GENETICS & HEREDITY | PHENOTYPE | Brain Diseases - diagnosis | Humans | Brain Diseases - genetics | Infant | Male | Malformations of Cortical Development - genetics | Cerebellum - abnormalities | Exome | Magnetic Resonance Imaging | Malformations of Cortical Development - diagnosis | Pedigree | Alleles | Electrocardiography | Epilepsy - genetics | Female | High-Throughput Nucleotide Sequencing | Mutation | Calcium Channels - genetics | Optic Atrophy - diagnosis | Optic Atrophy - genetics | Siblings | Purines | Pyrimidines | Calcium channels | Encephalopathy | Epilepsy | Genetic aspects | Seizures (Medicine)
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2. Full Text A patient with the classic features of Phelan‐McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72‐Mb deletion in the 22q13.2 region
by Simenson, Kristi and Õiglane‐Shlik, Eve and Teek, Rita and Kuuse, Kati and Õunap, Katrin
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2014, Volume 164, Issue 3, pp. 806 - 809
Phelan‐McDermid syndrome, also known as the 22q13 deletion syndrome, is a chromosomal microdeletion syndrome characterized by neonatal hypotonia, normal... 
TNFRSF13C gene | hyper immunoglobulin E | NFAM1 gene | Phelan‐McDermid syndrome | 22q13 deletion | Hyper immunoglobulin E | Phelan-McDermid syndrome | MOLECULAR CHARACTERIZATION | GROWTH | GENETICS & HEREDITY | GIRL | Chromosome Deletion | Brain - physiopathology | Humans | Male | Electroencephalography | Immunoglobulin E - blood | Chromosomes, Human, Pair 22 - genetics | Magnetic Resonance Imaging | Phenotype | Comparative Genomic Hybridization | Brain - pathology | Chromosome Disorders - diagnosis | Child | Chromosome Disorders - genetics | Immunoglobulin E | Printing industry
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3. Full Text PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene
by Õunap, Katrin and Muru, Kai and Õiglane-Shlik, Eve and Ilves, Pilvi and Pajusalu, Sander and Kuus, Imbi and Wojcik, Monica H and Reimand, Tiia
European journal of medical genetics, ISSN 1769-7212, 04/2019, p. 103660
PEHO syndrome is characterized by Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy, which was first described in Finnish patients. A... 
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4. Full Text Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
by Vals, Mari-Anne and Õiglane-Shlik, Eve and Nõukas, Margit and Shor, Riina and Peet, Aleksandr and Kals, Mart and Kivistik, Paula Ann and Metspalu, Andres and Õunap, Katrin
European Journal of Human Genetics, ISSN 1018-4813, 11/2014, Volume 22, Issue 11, pp. 1327 - 1329
Coffin-Sins Syndrome (CSS, MIM 135900) is a rare genetic disorder, and mutations in ARID1B were recently shown to cause CSS. In this study, we report a novel... 
COMPONENTS | CHROMATIN-REMODELING COMPLEX | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Megalencephaly - genetics | Frameshift Mutation | Face - abnormalities | Humans | Micrognathism - genetics | Hepatomegaly - genetics | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Obesity - genetics | Intellectual Disability - genetics | DNA-Binding Proteins - metabolism | Transcription Factors - metabolism | Hand Deformities, Congenital - genetics | Adolescent | Polycystic Ovary Syndrome - genetics | Hyperinsulinism - genetics | Female | Heterozygote | Abnormalities, Multiple - genetics | Polycystic ovary syndrome | Obesity | Genetic disorders | Laboratories | Nonsense mutation | Intellectual disabilities | Coffin-Siris syndrome | Genes | Frameshift mutation | Stop codon | Patients | Genetics | Mutation | Age | Short Report
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5. Full Text Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
by Wolff, M and Johannesen, K.M and Heich, U.B.S and Masnada, S and Rubboli, G and Gardella, E and Lesca, G and Ville, D and Milh, M and Villard, Laurent and Afenjar, Alexana and Chantot-Bastaraud, S and Mignot, A and Lardennois, C and Nava, Caroline and Schwarz, N and Gérard, M and Perrin, L and Doummar, Diane and Auvin, S and Miranda, M.J and Hempel, M and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and Kempen, M. J A and Braun, K.P and Mancini, Grazia and Biskup, S and Hörtnagel, K and Döcker, M and Bast, T and Loddenkemper, T and Wong-Kisiel, L and Baumeister, F.M and Fazeli, W and Striano, Pasquale and Dilena, R and Fontana, E and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, J.G and Arndt, D.H and Deconinck, N and Schmitt-Mechelke, T and Maier, O and Muhle, Hiltrud and Wical, B and Finetti, C and Brückner, R and Pietz, J and Golla, G and Jillella, D and Linnet, K.M and Charles, Perrine and Moog, U and Õiglane-Shlik, E and Mantovani, J.F and Park, K and Deprez, M and Lederer, Damien and Mary, S and Scalais, E and Selim, L and Coster, R. N A and Lagae, Lieven and Nikanorova, M and Hjalgrim, H and Korenke, Christoph and Trivisano, M and Specchio, N and Ceulemans, B and Dorn, T and Helbig, K.L and Hardies, K and Stamberger, H and Jonghe, P and Weckhuysen, S and Lemke, Johannes R and Krägeloh-Mann, I and Helbig, Ingo and Kluger, G and Lerche, Holger and Møller, Rikke
Brain: a journal of neurology, ISSN 0006-8950, 05/2017, Volume 140, Issue 5, pp. 1316 - 1336
textabstractMutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and... 
epilepsy | epilepsy genetics | SCN2A | treatment response | sodium channel blockers | AUTISM SPECTRUM DISORDER | MIGRATING FOCAL SEIZURES | SCN2A MUTATION | ONSET EPISODIC ATAXIA | SODIUM-CHANNEL | NEUROSCIENCES | CLINICAL NEUROLOGY | INTELLECTUAL DISABILITY | NEONATAL-INFANTILE SEIZURES | DE-NOVO MUTATIONS | MISSENSE MUTATION | EPILEPTIC ENCEPHALOPATHY | NAV1.2 Voltage-Gated Sodium Channel - physiology | Humans | NAV1.2 Voltage-Gated Sodium Channel - genetics | Child, Preschool | Infant | Male | Neurodevelopmental Disorders - genetics | Epilepsy - physiopathology | Epilepsy - epidemiology | Young Adult | Phenotype | Adolescent | Age of Onset | Denmark - epidemiology | Sodium Channel Blockers - therapeutic use | Adult | Epilepsy - drug therapy | Epilepsy - genetics | Female | Mutation | Child | Life Sciences | Genetics | Neurons and Cognition | Human genetics | Neurobiology
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6. Full Text BiallelicCACNA1Amutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy
by Reinson, Karit and Õiglane-Shlik, Eve and Talvik, Inga and Vaher, Ulvi and Õunapuu, Anne and Ennok, Margus and Teek, Rita and Pajusalu, Sander and Murumets, Ülle and Tomberg, Tiiu and Puusepp, Sanna and Piirsoo, Andres and Reimand, Tiia and Õunap, Katrin
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2016, Volume 170, Issue 8, pp. 2173 - 2176
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7. Full Text Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
by Wolff, Markus and Johannesen, Katrine M and Heich, Ulrike B S and Masnada, Silvia and Rubboli, Guido and Gardella, Elena and Lesca, Gaetan and Ville, Dorothée and Milh, Mathieu and Villard, Laurent and Afenjar, Alexana and Chantot-Bastaraud, Sana and Mignot, Cyril and Lardennois, Caroline and Nava, Caroline and Schwarz, Niklas and Gérard, Marion and Perrin, Laurence and Doummar, Diane and Auvin, Stéphane and Miranda, Maria J and Hempel, Maja and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and van Kempen, Marjan and Braun, Kees P and Mancini, Grazia and Biskup, Saskia and Hörtnagel, Konstanze and Döcker, Miriam and Bast, Thomas and Loddenkemper, Tobias and Wong-Kisiel, Lily and Baumeister, Frieich M and Fazeli, Walid and Striano, Pasquale and Dilena, Robertino and Fontana, Elena and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, Jess G and Arndt, Daniel H and Deconinck, Nicolas and Schmitt-Mechelke, Thomas and Maier, Oliver and Muhle, Hiltrud and Wical, Beverly and Finetti, Claudio and Brückner, Reinhard and Pietz, Joachim and Golla, Günther and Jillella, Dinesh and Linnet, Karen M and Charles, Perrine and Moog, Ute and Õiglane-Shlik, Eve and Mantovani, John F and Park, Kristen and Deprez, Marie and Lederer, Damien and Mary, Sanine and Scalais, Emmanuel and Selim, Laila and Van Coster, Rudy and Lagae, Lieven and Nikanorova, Marina and Hjalgrim, Helle and Korenke, G Christoph and Trivisano, Marina and Specchio, Nicola and Ceulemans, Berten and Dorn, Thomas and Helbig, Katherine L and Hardies, Katia and Stamberger, Hannah and de Jonghe, Peter and Weckhuysen, Sarah and Lemke, Johannes R and Krägeloh-Mann, Ingeborg and Helbig, Ingo and Kluger, Gerhard and Lerche, Holger and Møller, Rikke S
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 5, pp. 1316 - 1336
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental... 
Humans | Child, Preschool | Infant | Male | NAV1.2 Voltage-Gated Sodium Channel/genetics | Sodium Channel Blockers/therapeutic use | Young Adult | Epilepsy/drug therapy | Denmark/epidemiology | Phenotype | Adolescent | Age of Onset | Adult | Female | Mutation | Child | Neurodevelopmental Disorders/genetics
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8. Full Text Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
by Wolff, Markus and Johannesen, Katrine M and Heich, Ulrike B S and Masnada, Silvia and Rubboli, Guido and Gardella, Elena and Lesca, Gaetan and Ville, Dorothée and Milh, Mathieu and Villard, Laurent and Afenjar, Alexana and Chantot-Bastaraud, Sana and Mignot, Cyril and Lardennois, Caroline and Nava, Caroline and Schwarz, Niklas and Gérard, Marion and Perrin, Laurence and Doummar, Diane and Auvin, Stéphane and Miranda, Maria J and Hempel, Maja and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and van Kempen, Marjan and Braun, Kees P and Mancini, Grazia and Biskup, Saskia and Hörtnagel, Konstanze and Döcker, Miriam and Bast, Thomas and Loddenkemper, Tobias and Wong-Kisiel, Lily and Baumeister, Frieich M and Fazeli, Walid and Striano, Pasquale and Dilena, Robertino and Fontana, Elena and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, Jess G and Arndt, Daniel H and Deconinck, Nicolas and Schmitt-Mechelke, Thomas and Maier, Oliver and Muhle, Hiltrud and Wical, Beverly and Finetti, Claudio and Brückner, Reinhard and Pietz, Joachim and Golla, Günther and Jillella, Dinesh and Linnet, Karen M and Charles, Perrine and Moog, Ute and Õiglane-Shlik, Eve and Mantovani, John F and Park, Kristen and Deprez, Marie and Lederer, Damien and Mary, Sanine and Scalais, Emmanuel and Selim, Laila and Van Coster, Rudy and Lagae, Lieven and Nikanorova, Marina and Hjalgrim, Helle and Korenke, G Christoph and Trivisano, Marina and Specchio, Nicola and Ceulemans, Berten and Dorn, Thomas and Helbig, Katherine L and Hardies, Katia and Stamberger, Hannah and de Jonghe, Peter and Weckhuysen, Sarah and Lemke, Johannes R and Krägeloh-Mann, Ingeborg and Helbig, Ingo and Kluger, Gerhard and Lerche, Holger and Møller, Rikke S
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 5, p. 1316
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental... 
Epilepsy | Humans | Child, Preschool | Infant | Male | Young Adult | Phenotype | Adolescent | Age of Onset | Denmark | Adult | Female | Neurodevelopmental Disorders | Mutation | Sodium Channel Blockers | Child | NAV1.2 Voltage-Gated Sodium Channel
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9. Full Text A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016
by Yakoreva, Maria and Kahre, Tiina and Žordania, Riina and Reinson, Karit and Teek, Rita and Tillmann, Vallo and Peet, Aleksandr and Õiglane-Shlik, Eve and Pajusalu, Sander and Murumets, Ülle and Vals, Mari-Anne and Mee, Pille and Wojcik, Monica H and Õunap, Katrin
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 11, pp. 1649 - 1658
Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily affecting growth, development, and the hormonal and metabolic... 
MORTALITY | BECKWITH-WIEDEMANN-SYNDROME | MOLECULAR DIAGNOSIS | ABNORMALITIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | SILVER-RUSSELL | FREQUENCY | GENETICS & HEREDITY | ANGELMAN-SYNDROME | MALFORMATION SYNDROMES | PRADER-WILLI-SYNDROME | BIRTH PREVALENCE | Neonates | Puberty | Myoclonus | Diabetes mellitus | Imprinting | Menopause | Dystonia
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10. Full Text The neonatal phenotype of Prader–Willi syndrome
by Õiglane‐Shlik, Eve and Žordania, Riina and Varendi, Heili and Antson, Anne and Mägi, Marja‐Liis and Tasa, Gunnar and Bartsch, Oliver and Talvik, Tiina and Õunap, Katrin
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2006, Volume 140A, Issue 11, pp. 1241 - 1244
DIAGNOSIS | TRANSLOCATION | GENETICS & HEREDITY | Prader-Willi Syndrome - diagnosis | DNA Methylation | Phenotype | Face - abnormalities | Humans | Prader-Willi Syndrome - genetics | Uniparental Disomy | Female | Male | Fingers - abnormalities | Infant, Newborn
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11. Full Text Prevalence of Angelman syndrome and Prader–Willi syndrome in Estonian children: Sister syndromes not equally represented
by Õiglane‐Shlik, Eve and Talvik, Tiina and Žordania, Riina and Põder, Haide and Kahre, Tiina and Raukas, Elve and Ilus, Tiiu and Tasa, Gunnar and Bartsch, Oliver and Väisänen, Marja‐Leena and Õunap, Katrin
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2006, Volume 140A, Issue 18, pp. 1936 - 1943
In 2000–2004, we performed a focused search for individuals with Angelman syndrome (AS) and Prader–Willi syndrome (PWS) aiming to establish the prevalence data... 
population prevalence | Angelman syndrome | Prader–Willi syndrome | livebirth prevalence | POPULATION | WESTERN-AUSTRALIA | Prader-Willi syndrome | MENTAL-RETARDATION | BIRTH INCIDENCE | PHENOTYPE | UBE3A | SENSITIVE GEL-ELECTROPHORESIS | MOLECULAR DIAGNOSIS | GENETICS & HEREDITY | MUTATIONS | DIAGNOSTIC-CRITERIA | Prader-Willi Syndrome - epidemiology | Chromosome Banding | Prevalence | Estonia - epidemiology | Angelman Syndrome - epidemiology | Humans | In Situ Hybridization, Fluorescence | Male | DNA Methylation | Molecular Epidemiology | DNA Mutational Analysis | Angelman Syndrome - genetics | Prader-Willi Syndrome - genetics | Female | Child
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12. Full Text Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia
by Puusepp, Sanna and Reinson, Karit and Pajusalu, Sander and Murumets, Ülle and Õiglane-Shlik, Eve and Rein, Reet and Talvik, Inga and Rodenburg, Richard J and Õunap, Katrin
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2018, Volume 15, pp. 80 - 89
Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there is... 
Mitochondrial disorders | Whole exome sequencing | Muscle biopsy | mtDNA sequencing | READ ALIGNMENT | NUCLEAR | MUSCLE | GENETICS | DNA | DISEASE | GENETICS & HEREDITY | MUTATIONS | DIAGNOSTIC-CRITERIA | ASSOCIATION | RESPIRATORY-CHAIN DISORDERS
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13. Full Text Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11
by Reinson, Karit and Kovacs-Nagy, Reka and Õiglane-Shlik, Eve and Pajusalu, Sander and Nõukas, Margit and Wintjes, Liesbeth T and van den Brandt, Frans C.A and Brink, Maaike and Acker, Till and Ahting, Uwe and Hahn, Andreas and Schänzer, Anne and Haack, Tobias B and Rodenburg, Richard J and Õunap, Katrin
European Journal of Medical Genetics, ISSN 1769-7212, 11/2019, Volume 62, Issue 11, p. 103572
Mitochondrial complex I deficiency is the most frequent mitochondrial disorder presenting in childhood and the mutational spectrum is highly heterogeneous. The... 
Congenital sideroblastic anemia | Mitochondrial complex I deficiency | NDUFB11 | Histiocytoid cardiomyopathy | PATHOGENESIS | DEFECTS | CARDIOMYOPATHY | GENETICS & HEREDITY | MICROPHTHALMIA
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14. Full Text A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
by Zufferey, Flore and Sherr, Elliott H and Beckmann, Noam D and Hanson, Ellen and Maillard, Anne M and Hippolyte, Loyse and Macé, Aurélien and Ferrari, Carina and Kutalik, Zoltán and Andrieux, Joris and Aylward, Elizabeth and Barker, Mandy and Bernier, Raphael and Bouquillon, Sonia and Conus, Philippe and Delobel, Bruno and Faucett, W Andrew and Goin-Kochel, Robin P and Grant, Ellen and Harewood, Louise and Hunter, Jill V and Lebon, Sébastien and Ledbetter, David H and Martin, Christa Lese and Männik, Katrin and Martinet, Danielle and Mukherjee, Pratik and Ramocki, Melissa B and Spence, Sarah J and Steinman, Kyle J and Tjernagel, Jennifer and Spiro, John E and Reymond, Alexandre and Beckmann, Jacques S and Chung, Wendy K and Jacquemont, Sébastien and Simons VIP Consortium and 16P11-2 European Consortium and 16p11.2 European Consortium and on behalf of the Simons VIP Consortium and on behalf of the 16p11.2 European Consortium
Journal of Medical Genetics, ISSN 0022-2593, 10/2012, Volume 49, Issue 10, pp. 660 - 668
Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related... 
MICRODELETION | INDIVIDUALS | DE-NOVO | OBESITY | AUTISM | GENETICS & HEREDITY | PHENOTYPES | SPECTRUM | REARRANGEMENTS | ASSOCIATION | COPY-NUMBER VARIATION | Body Mass Index | Chromosome Deletion | Humans | Male | Developmental Disabilities - genetics | Intelligence Tests | Syndrome | Young Adult | Phenotype | Child Development Disorders, Pervasive - genetics | Adolescent | Child Development Disorders, Pervasive - diagnosis | Chromosomes, Human, Pair 16 | Adult | Female | Heterozygote | Child | Developmental Disabilities - diagnosis | Gene Order | Life Sciences | Obesity | Clinical genetics | 1506 | Psychiatry | Complex traits | Copy-Number Variation
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15. Full Text Incidence of Childhood Epilepsy in Estonia
by Veri, Kadi and Talvik, Inga and Vaher, Ulvi and Napa, Aita and Ilves, Pilvi and Uibo, Oivi and Õiglane-Shlik, Eve and Laugesaar, Rael and Rein, Reet and Kolk, Anneli and Noormets, Klari and Reimand, Tiia and Õunap, Katrin and Talvik, Tiina
Journal of Child Neurology, ISSN 0883-0738, 8/2018, Volume 33, Issue 9, pp. 587 - 592
The aim of this prospective epidemiological study was to establish the incidence rate of childhood epilepsy in Estonia, to describe the clinical spectrum and... 
epilepsy | epidemiology | incidence | Estonia | etiology | POPULATION | CLASSIFICATION | TERMINOLOGY | PREVALENCE | DUTCH | CLINICAL NEUROLOGY | CHILDREN | SEIZURES | PEDIATRICS | RECURRENCE | Age Distribution | Prospective Studies | Estonia - epidemiology | Humans | Community Health Planning | Child, Preschool | Infant | Male | Electroencephalography | Epilepsy - classification | DNA Copy Number Variations | Epilepsy - diagnosis | Epilepsy - epidemiology | Incidence | Adolescent | Epilepsy - genetics | Female | Child | Infant, Newborn
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