Search Results - "Õunap, K"

The natural history of classic galactosemia: lessons from the GalNet registry by Rubio-Gozalbo, M E, Haskovic, M, Bosch, A M, Burnyte, B, Coelho, A I, Cassiman, D, Couce, M L, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, M T, Grunewald, S, Häberle, J, Hochuli, M, Hubert, A, Huidekoper, H H, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, Y E, Langendonk, J G, Möslinger, D, Müller-Wieland, D, Murphy, E, Õunap, K, Ramadza, D, Rivera, I A, Scholl-Buergi, S, Stepien, K M, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, R, de Vries, M, Waisbren, S E, Welsink-Karssies, M M, Wortmann, S B, Gautschi, M, Treacy, E P, Berry, G T

“…Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase…”
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Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes by Bartholdi, D, Krajewska-Walasek, M, Ounap, K, Gaspar, H, Chrzanowska, K H, Ilyana, H, Kayserili, H, Lurie, I W, Schinzel, A, Baumer, A

“…Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterised by severe intrauterine and postnatal growth retardation…”
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Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene by Mauring, L, Puusepp, S, Parik, M, Roomets, E, Teek, R, Reimand, T, Pajusalu, S, Kaljurand, K, Õunap, K

“…Recently, Stenton et al. (2021) described a new, autosomal recessive inheritance pattern of Leber's hereditary optic neuropathy (LHON) caused by missense…”
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Large gene panel sequencing in clinical diagnostics—results from 501 consecutive cases by Pajusalu, S., Kahre, T., Roomere, H., Murumets, Ü., Roht, L., Simenson, K., Reimand, T., Õunap, K.

“…Background In addition to whole exomes, large gene panels of clinically associated genes are used as high‐throughput sequencing tests in many clinical centers,…”
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Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control by Krabbi, K., Uudelepp, M.-L., Joost, K., Zordania, R., Õunap, K.

“…The main aim of our study was to retrospectively evaluate long-term complications and measure urinary galactose and galactitol excretion in classical…”
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The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation by Puusepp, H., Kall, K., Salomons, G. S., Talvik, I., Männamaa, M., Rein, R., Jakobs, C., Õunap, K.

“…Summary The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X-linked mental retardation…”
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Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families by Žilina, O., Reimand, T., Zjablovskaja, P., Männik, K., Männamaa, M., Traat, A., Puusepp-Benazzouz, H., Kurg, A., Õunap, K.

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Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients by Teek, R, Kruustük, K, Žordania, R, Joost, K, Kahre, T, Tõnisson, N, Nelis, M, Zilina, O, Tranebjaerg, L, Reimand, T, Õunap, K

“…The present study was initiated to establish the etiological causes of early onset hearing loss (HL) among Estonian children between 2000–2009. The study group…”
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A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene by Muru, K., Kalev, I., Teek, R., Sõnajalg, M., Kuuse, K., Reimand, T., Õunap, K.

“…Holt-Oram syndrome (HOS) is an autosomal dominant developmental defect involving preaxial radial ray upper limb deformity and variable cardiac defects. It has…”
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A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children by Joost, K., Rodenburg, R.J., Piirsoo, A., van den Heuvel, L., Žordania, R., Põder, H., Talvik, I., Kilk, K., Soomets, U., Õunap, K.

“…Mitochondrial disorders are a heterogeneous group of disorders affecting energy production of the body. Different consensus diagnostic criteria for…”
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Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency by Joost, K., Tammur, P., Teek, R., Žilina, O., Peters, M., Kreile, M., Lace, B., Žordania, R., Talvik, I., Õunap, K.

“…Background: Females with a total or partial deletion of the short arm of the X chromosome have variable features of Turner syndrome, but mental retardation…”
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PP12.11 – 2550: Atypical forms of 4H leukodystrophy by Cayami, F, LaPiana, R, Õunap, K, Pajusalu, S, Prokisch, H, Wassmer, E, Timmann, D, Tran, L.T, Guerrero, K, Atik, T, Onay, H, Özkinay, F, Haack, T, Klopstock, T, Karin, I, van Spaendonk, R.M.L, van der Knaap, M.S, Bernard, G, Wolf, N.I

“…Objective 4H leukodystrophy (4H) is a rare inherited disorder characterized by hypomyelination, hypodontia and hypogonadotropic hypogonadism, although dental…”
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 by Froguel, P, Beckmann, J. S, Walters, R. G, Jacquemont, S, Valsesia, A, de Smith, A. J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J. S, Chèvre, J.-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J. L, Boute, O, Holder-Espinasse, M, Cuisset, J.-M, Lemaitre, M.-P, Ambresin, A.-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J.-L, Le Caignec, C, David, A, Isidor, B, Cordier, M.-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Õunap, K, Bochukova, E. G, Henning, E, Keogh, J, Ellis, R. J, MacDermot, K. D, van Haelst, M. M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R. F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A.-L, McCarthy, M. I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M. E, O'Rahilly, S, Farooqi, I. S, Männik, K, Jarvelin, M.-R, Pattou, F, Meyre, D, Walley, A. J, Coin, L. J. M, Blakemore, A. I. F

“…Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic…”
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency by van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S

“…Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been…”
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Factors driving endothelial cell state changes in atherosclerosis by Nurminen, V., Örd, T., Õunap, K., Niskanen, H., Palani, S., Lonnberg, T., Roivainen, A., Kaikkonen, M.U.

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654P Different lower limb muscle MRI patterns in autosomal dominant titinopathies by Andres, D. Gomez, Comellas, L. Costa, Díaz-Manera, J., Õunap, K., Álvarez-Molinero, M., Urcuyo, G., Savarese, M., Munell, F., Udd, B.

“…Titin plays a crucial role in sarcomere structure and function. Its complexity is reflected in its corresponding genetic disorders, and the different types of…”
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Functional fine-mapping of coronary artery disease risk variants identified by single-cell profiling of accessible chromatin in human atherosclerotic lesions by Örd, T., Õunap, K., Stolze, L.K., Nurminen, V., Aherrahrou, R., Toropainen, A., Aavik, E., Ylä-Herttuala, S., Civelek, M., Romanoski, C.E., Kaikkonen, M.U.

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Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development by Õunap, K., Uibo, O., Zordania, R., Kiho, L., Ilus, T., Õiglane‐Shlik, E., Bartsch, O.

“…It is well documented that distal 9p monosomy can be associated with XY sex reversal. Recently, the possibility of DMRT1 and/or DMRT2 (the genes for doublesex…”
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Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia by Joost, K., Õunap, K., Žordania, R., Uudelepp, M.-L., Olsen, R. K., Kall, K., Kilk, K., Soomets, U., Kahre, T.

“…The aim of our study was to evaluate the prevalence of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the general Estonian population and…”
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EP.117Charcot-Marie-Tooth neuropathy, intellectual disability, intractable epilepsy, aggressiveness, and biallelic MCM3AP variants in two sibs by Puusepp, S., Reinson, K., Pajusalu, S., Oiglane-Shlik, E., Ilves, P., Wojcik, M., Ounap, K.

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