Õunap, Katrin: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Prospective experience with contingent screening strategy for Down syndrome in Estonia

Kai Muru, Mari Sitska, Karin Asser, Aivar Ehrenberg, Helle Karro, Katrin Õunap, Tiia Reimand

Journal:

Journal of Community Genetics

Year:

2010

Language:

english

File:

PDF, 283 KB

english, 2010

2

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Snijders Blok, Lot, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M.A., van Gassen, Koen L.I., Firth, Helen V., Tomkins, Susan, Bodek, Simon, Õunap, Katrin,

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 2.27 MB

english, 2019

3

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature

Lilles, Stella, Talvik, Inga, Noormets, Klari, Vaher, Ulvi, Õunap, Katrin, Reimand, Tiia, Sander, Valentin, Ilves, Pilvi, Talvik, Tiina

Journal:

Neuropediatrics

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

4

LEOPARD syndrome with recurrentPTPN11mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature

Ingrid Kalev, Kai Muru, Rita Teek, Riina Zordania, Tiia Reimand, Kristel Köbas, Katrin Õunap

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 199 KB

english, 2010

5

Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

Jörg Weimer, Simone Metzke-Heidemann, Hansjörg Plendl, Almuth Caliebe, Regina Grunewald, Katrin Õunap, Pille Tammur, Walter Jonat, Oliver Bartsch, Reiner Siebert, Norbert Arnold

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 251 KB

english, 2006

6

Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients

Katrin Õunap, Kairit Joost, Triinu Temberg, Külliki Krabbi, Neeme Tõnisson

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 54 KB

english, 2010

7

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

Mitter, Diana, Ullmann, Reinhard, Muradyan, Artur, Klein-Hitpaß, Ludger, Kanber, Deniz, Õunap, Katrin, Kaulisch, Marc, Lohmann, Dietmar

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 900 KB

english, 2011

8

Prevalence of Angelman syndrome and Prader–Willi syndrome in Estonian children: Sister syndromes not equally represented

Eve Õiglane-Shlik, Tiina Talvik, Riina Žordania, Haide Põder, Tiina Kahre, Elve Raukas, Tiiu Ilus, Gunnar Tasa, Oliver Bartsch, Marja-Leena Väisänen, Katrin Õunap

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 123 KB

english, 2006

9

Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays

Eneli Oitmaa, Maire Peters, Kadri Vaidla, Reidar Andreson, Reedik Mägi, Georgi Slavin, Agne Velthut, Neeme Tõnisson, Tiia Reimand, Maido Remm, Marion Schneider, Katrin Õunap, Andres Salumets, Andres M

Journal:

Prenatal Diagnosis

Year:

2010

Language:

english

File:

PDF, 237 KB

english, 2010

10

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

Katrin Õunap, Helen Puusepp-Benazzouz, Maire Peters, Ulvi Vaher, Reet Rein, Anne Proos, Mike Field, Tiia Reimand

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 1.34 MB

english, 2012

11

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene

Õunap, Katrin, Muru, Kai, Õiglane-Shlik, Eve, Ilves, Pilvi, Pajusalu, Sander, Kuus, Imbi, Wojcik, Monica H., Reimand, Tiia

Journal:

European Journal of Medical Genetics

Year:

2019

File:

PDF, 2.42 MB

2019

12

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

Simenson, Kristi, Õiglane-Shlik, Eve, Teek, Rita, Kuuse, Kati, Õunap, Katrin

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 695 KB

english, 2014

13

Incidence of Childhood Epilepsy in Estonia

Veri, Kadi, Talvik, Inga, Vaher, Ulvi, Napa, Aita, Ilves, Pilvi, Uibo, Oivi, Õiglane-Shlik, Eve, Laugesaar, Rael, Rein, Reet, Kolk, Anneli, Noormets, Klari, Reimand, Tiia, Õunap, Katrin, Talvik, Tiina

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 196 KB

english, 2018

14

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis

Pajusalu, Sander, Reimand, Tiia, Uibo, Oivi, Vasar, Maire, Talvik, Inga, Zilina, Olga, Tammur, Pille, Õunap, Katrin

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 975 KB

english, 2015

15

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene

Õunap, Katrin, Muru, Kai, Õiglane-Shlik, Eve, Ilves, Pilvi, Pajusalu, Sander, Kuus, Imbi, Wojcik, Monica H., Reimand, Tiia

Journal:

European Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 2.42 MB

english, 2019

16

A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21

Katrin Õunap, Tiiu Ilus, Piret Laidre, Oivi Uibo, Pille Tammur, Oliver Bartsch

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 185 KB

english, 2005

17

A Novel Mutation in the SCO2 Gene in a Neonate With Early-Onset Cardioencephalomyopathy

Kairit Joost, Richard Rodenburg, Andres Piirsoo, Bert van den Heuvel, Riina Zordania, Katrin Õunap

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 558 KB

english, 2010

18

Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome

Pajusalu, Sander, Reimand, Tiia, Õunap, Katrin

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 737 KB

english, 2015

19

The neonatal phenotype of Prader–Willi syndrome

Eve Õiglane-Shlik, Riina Žordania, Heili Varendi, Anne Antson, Marja-Liis Mägi, Gunnar Tasa, Oliver Bartsch, Tiina Talvik, Katrin Õunap

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 137 KB

english, 2006

20

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia

Rita Teek, Katrin Kruustük, Riina Zordania, Kairit Joost, Tiia Reimand, Tõnu Möls, Eneli Oitmaa, Tiina Kahre, Neeme Tõnisson, Katrin Õunap

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2010

Language:

english

File:

PDF, 397 KB

english, 2010

21

A Female With Angelman Syndrome and Unusual Limb Deformities

Eve Õiglane-Shlik, Reet Rein, Vallo Tillmann, Tiina Talvik, Katrin Õunap

Journal:

Pediatric Neurology

Year:

2005

Language:

english

File:

PDF, 187 KB

english, 2005

22

FLAD1 ‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

Muru, Kai, Reinson, Karit, Künnapas, Kadi, Lilleväli, Hardo, Nochi, Zahra, Mosegaard, Signe, Pajusalu, Sander, Olsen, Rikke K. J., Õunap, Katrin

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 458 KB

english, 2019

23

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader–Willi syndrome

Žilina, Olga, Kahre, Tiina, Talvik, Inga, Õiglane-Shlik, Eve, Tillmann, Vallo, Õunap, Katrin

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.13 MB

english, 2014

24

An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature

Õunap, Katrin, Pajusalu, Sander, Zilina, Olga, Reimand, Tiia, Žordania, Riina

Journal:

Clinical Case Reports

Year:

2016

Language:

english

File:

PDF, 726 KB

english, 2016

25

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology

Journal:

Molecular Syndromology

Year:

2016

Language:

english

File:

PDF, 1.64 MB

english, 2016

26

MECP2 mutation analysis in patients with mental retardation

Tero Ylisaukko-oja, Karola Rehnström, Raija Vanhala, Elli Kempas, Harriet von Koskull, Carola Tengström, Aki Mustonen, Katrin Õunap, Jaana Lähdetie, Irma Järvelä

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

27

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, Saskia B. Wortmann, Jolanta Sykut-Cegielska, Regina Ensenauer, Hélène Ogier de Baulny, Katrin Õunap, Diego Martinelli, Maaike de Vries, Robert Mc

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 98 KB

english, 2011

28

Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia

Agnieszka Jurecka, Ewa Piotrowska, Loreta Cimbalistiene, Nina Gusina, Agnieszka Sobczyńska, Barbara Czartoryska, Kamila Czerska, Katrin Õunap, Grzegorz Węgrzyn, Anna Tylki-Szymańska

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 368 KB

english, 2012

29

Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities

Õiglane-Shlik, Eve, Puusepp, Sanna, Talvik, Inga, Vaher, Ulvi, Rein, Reet, Tammur, Pille, Reimand, Tiia, Teek, Rita, Žilina, Olga, Tomberg, Tiiu, Õunap, Katrin

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 1.36 MB

english, 2014

30

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

Ridnõi, Konstantin, Šois, Marek, Vaidla, Eve, Pajusalu, Sander, Kelder, Larissa, Reimand, Tiia, Õunap, Katrin

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 395 KB

english, 2019

31

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

Ridnõi, Konstantin, Kurvinen, Elvira, Pajusalu, Sander, Reimand, Tiia, Õunap, Katrin

Journal:

Molecular Syndromology

Year:

2018

Language:

english

File:

PDF, 1.94 MB

english, 2018

32

5.9 Mb microdeletion in chromosome band 17q22–q23.2 associated with tracheo-esophageal fistula and conductive hearing loss

Helen Puusepp, Olga Zilina, Rita Teek, Katrin Männik, Sven Parkel, Katrin Kruustük, Kati Kuuse, Ants Kurg, Katrin Õunap

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 236 KB

english, 2009

33

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

Yakoreva, Maria, Kahre, Tiina, Pajusalu, Sander, Ilisson, Piret, Žilina, Olga, Tillmann, Vallo, Reimand, Tiia, Õunap, Katrin

Journal:

Molecular Syndromology

Year:

2018

Language:

english

File:

PDF, 1.60 MB

english, 2018

34

Girl With Partial Turner Syndrome and Absence Epilepsy

Helen Puusepp, Riina Zordania, Mare Paal, Oliver Bartsch, Katrin Õunap

Journal:

Pediatric Neurology

Year:

2008

Language:

english

File:

PDF, 233 KB

english, 2008

35

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly

Grotto, Sarah, Drouin-Garraud, Valérie, Õunap, Katrin, Puusepp-Benazzouz, Helen, Schuurs-Hoeijmakers, Janneke, Le Meur, Nathalie, Chambon, Pascal, Fehrenbach, Séverine, van Bokhoven, Hans, Frébourg, T

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.31 MB

english, 2014

36

Large Gene Panel Sequencing in Clinical Diagnostics - Results from 501 Consecutive Cases

Pajusalu, Sander, Kahre, Tiina, Roomere, Hanno, Murumets, Ülle, Roht, Laura, Simenson, Kristi, Reimand, Tiia, Õunap, Katrin

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1001 KB

english, 2017

37

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R

Leffler, Melanie, Puusepp, Sanna, Žilina, Olga, Zhu, Ying, Kuuse, Kati, Bain, Nicole, Burgess, Trent, Õunap, Katrin, Field, Michael

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

38

Mutation 985A>G in the MCAD gene shows low incidence in Estonian population

Hardo Lilleväli, Külli Margus, Katrin Õunap, Andres Metspalu

Journal:

Year:

2000

Language:

english

File:

PDF, 16 KB

english, 2000

39

Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32→qter

Inga Talvik, Katrin Õunap, Oliver Bartsch, Tiiu Ilus, Oivi Uibo, Tiina Talvik

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 135 KB

english, 2000

40

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 → qter, and trisomy 8q24.3 → qter

Katrin Õunap, Oliver Bartsch, Oivi Uibo, Piret Laidre

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 133 KB

english, 2002

41

Descriptive epidemiology of Down’s syndrome in Estonia

Tiia Reimand, Katrin Õunap, Riina Zordania, Tiiu Ilus, Oivi Uibo, Mari Sitska, Tiina Talvik

Journal:

Paediatric and Perinatal Epidemiology

Year:

2006

Language:

english

File:

PDF, 123 KB

english, 2006

42

High incidence of low vitamin B12 levels in Estonian newborns

Reinson, Karit, Künnapas, Kadi, Kriisa, Annika, Vals, Mari-Anne, Muru, Kai, Õunap, Katrin

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 165 KB

english, 2018

43

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience

Žilina, Olga, Teek, Rita, Tammur, Pille, Kuuse, Kati, Yakoreva, Maria, Vaidla, Eve, Mölter-Väär, Triin, Reimand, Tiia, Kurg, Ants, Õunap, Katrin

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 494 KB

english, 2014

44

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Vals, Mari-Anne, Õiglane-Shlik, Eve, Nõukas, Margit, Shor, Riina, Peet, Aleksandr, Kals, Mart, Kivistik, Paula Ann, Metspalu, Andres, Õunap, Katrin

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 548 KB

english, 2014

45

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

Puusepp, Sanna, Reinson, Karit, Pajusalu, Sander, Murumets, Ülle, Õiglane-Shlik, Eve, Rein, Reet, Talvik, Inga, Rodenburg, Richard J., Õunap, Katrin

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 238 KB

english, 2018

46

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Snijders Blok, Lot, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M.A., van Gassen, Koen L.I., Firth, Helen V., Tomkins, Susan, Bodek, Simon, Õunap, Katrin,

Journal:

The American Journal of Human Genetics

Year:

2019

File:

PDF, 2.27 MB

2019

47

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

Oliver Bartsch, Michaela Nemecková, Eduard Kocárek, Annett Wagner, Alena Puchmajerová, Maja Poppe, Katrin Ounap, Petr Goetz

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 141 KB

english, 2003

48

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

Vanmarsenille, Lieselot, Giannandrea, Maila, Fieremans, Nathalie, Verbeeck, Jelle, Belet, Stefanie, Raynaud, Martine, Vogels, Annick, Männik, Katrin, Õunap, Katrin, Jacqueline, Vigneron, Briault, Sylv

Journal:

Year:

2014

Language:

english

File:

PDF, 872 KB

english, 2014

49

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver–Russell Syndrome and Beckwith–Wiedemann Syndrome

Vals, Mari-Anne, Yakoreva, Maria, Kahre, Tiina, Mee, Pille, Muru, Kai, Joost, Kairit, Teek, Rita, Soellner, Lukas, Eggermann, Thomas, Õunap, Katrin

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2015

Language:

english

File:

PDF, 177 KB

english, 2015

50

A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndrome

Katrin Õunap, Tiiu Ilus, Oliver Bartsch

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 165 KB

english, 2005

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски