Search Results - "Preiksaitiene, Egle"

Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants by Mattioli, Francesca, Voisin, Norine, Preikšaitienė, Eglė, Kozlovskaja, Irina, Kučinskas, Vaidutis, Reymond, Alexandre

“…Individuals carrying biallelic loss‐of‐function mutations in PCDH12 have been reported with three different conditions: the diencephalic–mesencephalic junction…”
Get full text

Genomic control process: development and evolution by Preiksaitiene, Egle, Kucinskas, Vaidutis

Get full text

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay by Maldžienė, Živilė, Preikšaitienė, Eglė, Ignotienė, Salomėja, Kapitanova, Natalija, Utkus, Algirdas, Kučinskas, Vaidutis

“…Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect…”
Get more information

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects by Kalinauskiene, Ruta, Brazdziunaite, Deimante, Burokiene, Neringa, Dirsė, Vaidas, Morkuniene, Ausra, Utkus, Algirdas, Preiksaitiene, Egle

“…Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical…”
Get full text

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients by Poole, Rebecca L., Bijlsma, Emilia K., Houge, Gunnar, Jones, Gabriela, Mikštienė, Violeta, Preikšaitienė, Eglė, Thompson, Louise, Tatton-Brown, Katrina

“…Potocki–Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing the plant homeodomain…”
Get full text

Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome by Zebrauskiene, Dovile, Sadauskiene, Egle, Dapkunas, Justas, Kairys, Visvaldas, Balciunas, Joris, Konovalovas, Aleksandras, Masiuliene, Ruta, Petraityte, Gunda, Valeviciene, Nomeda, Mataciunas, Mindaugas, Barysiene, Jurate, Mikstiene, Violeta, Tomkuviene, Migle, Preiksaitiene, Egle

“…Tatton-Brown-Rahman syndrome (TBRS) is a rare congenital genetic disorder caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A…”
Get full text

Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome by Pranckėnienė, Laura, Bumbulienė, Žana, Dasevičius, Darius, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė

“…Androgen receptor (AR) mutations, which cause androgen insensitivity syndrome, impair the actions of 5α-dihydrotestosterone and testosterone, resulting in…”
Get full text

De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome by Pranckėnienė, Laura, Preikšaitienė, Eglė, Gueneau, Lucie, Reymond, Alexandre, Kučinskas, Vaidutis

“…CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in…”
Get full text

Recurrent fetal syndromic spina bifida associated with 3q26.1-qter duplication and 5p13.33-pter deletion due to familial balanced rearrangement by Preiksaitiene, Egle, Benušienė, Eglė, Ciuladaite, Zivile, Šliužas, Vytautas, Mikštienė, Violeta, Kučinskas, Vaidutis

“…Abstract Objective Neural tube defects belong to the second most common group of congenital anomalies, after heart defects, which can be diagnosed by prenatal…”
Get full text

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome by Preiksaitiene, Egle, Caro, Alfonso, Benušienė, Eglė, Oltra, Silvestre, Orellana, Carmen, Morkūnienė, Aušra, Roselló, Mónica Pilar, Kasnauskiene, Jurate, Monfort, Sandra, Kučinskas, Vaidutis, Mayo, Sonia, Martinez, Francisco

“…The NSDHL gene encodes 3β‐hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. Mutations in this gene can…”
Get full text

Clinical and molecular characterization of a second case of 7p22.1 microduplication by Preiksaitiene, Egle, Kasnauskiene, Jurate, Ciuladaite, Zivile, Tumiene, Birute, Patsalis, Philippos C., Kučinskas, Vaidutis

“…The use of high‐resolution microarray technology for investigation of patients with intellectual disability and/or congenital anomalies provided the unique…”
Get full text

ETV6 and NOTCH1 germline variants in adult acute leukemia by Dirse, Vaidas, Norvilas, Rimvydas, Gineikiene, Egle, Matuzevičienė, Rėda, Griskevicius, Laimonas, Preiksaitiene, Egle

Get full text

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis by Gueneau, Lucie, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R., Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaityte, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J., Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M., Wiederkehr, Michaël, Wright, Caroline F., Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M., Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaëtan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S., Reymond, Alexandre

“…Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and…”
Get full text

Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families by Preiksaitiene, Egle, Voisin, Norine, Gueneau, Lucie, Benušienė, Eglė, Krasovskaja, Natalija, Blažytė, Evelina Marija, Ambrozaitytė, Laima, Rančelis, Tautvydas, Reymond, Alexandre, Kučinskas, Vaidutis

“…Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb‐girdle muscular dystrophy‐dystroglycanopathy, type C12…”
Get full text

Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion by Ciuladaite, Zivile, Preiksaitiene, Egle, Utkus, Algirdas, Kučinskas, Vaidutis

“…Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only few cases of familial inheritance. Such chromosomal rearrangements may…”
Get more information

16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay by Maldžienė, Živilė, Bulanovaitė, Elena, Aleksiūnienė, Beata, Utkus, Algirdas, Preiksaitiene, Egle

Get full text

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries by Sharapova, Svetlana O, Skomska-Pawliszak, Małgorzata, Rodina, Yulia A, Wolska-Kuśnierz, Beata, Dabrowska-Leonik, Nel, Mikołuć, Bozena, Pashchenko, Olga E, Pasic, Srdjan, Freiberger, Tomáš, Milota, Tomáš, Formánková, Renata, Szaflarska, Anna, Siedlar, Maciej, Avčin, Tadej, Markelj, Gašper, Ciznar, Peter, Kalwak, Krzysztof, Kołtan, Sylwia, Jackowska, Teresa, Drabko, Katarzyna, Gagro, Alenka, Pac, Małgorzata, Naumova, Elissaveta, Kandilarova, Snezhina, Babol-Pokora, Katarzyna, Varabyou, Dzmitry S, Barendregt, Barbara H, Raykina, Elena V, Varlamova, Tatiana V, Pavlova, Anna V, Grombirikova, Hana, Debeljak, Maruša, Mersiyanova, Irina V, Bondarenko, Anastasiia V, Chernyshova, Liudmyla I, Kostyuchenko, Larysa V, Guseva, Marina N, Rascon, Jelena, Muleviciene, Audrone, Preiksaitiene, Egle, Geier, Christoph B, Leiss-Piller, Alexander, Yamazaki, Yasuhiro, Kawai, Tomoki, Walter, Jolan E, Kondratenko, Irina V, Šedivá, Anna, van der Burg, Mirjam, Kuzmenko, Natalia B, Notarangelo, Luigi D, Bernatowska, Ewa, Aleinikova, Olga V

“…Variants in recombination-activating genes ( ) are common genetic causes of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe…”
Get full text

A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability by Kasnauskiene, Jurate, Ciuladaite, Zivile, Preiksaitiene, Egle, Utkus, Algirdas, Peciulyte, Agnė, Kučinskas, Vaidutis

“…We report on a 15‐year‐old patient with hyperactivity, intellectual disability and severe speech developmental delay. An array CGH analysis revealed de novo…”
Get full text

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability by Maldžienė, Živilė, Vaitėnienė, Evelina M, Aleksiūnienė, Beata, Utkus, Algirdas, Preikšaitienė, Eglė

“…Interstitial 4q deletions are rare chromosomal alterations. Most of the previously reported deletions involving the 4q13.3 region are large chromosomal…”
Get full text

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report by Siavriene, Evelina, Petraityte, Gunda, Burnyte, Birute, Morkuniene, Ausra, Mikstiene, Violeta, Rancelis, Tautvydas, Utkus, Algirdas, Kucinskas, Vaidutis, Preiksaitiene, Egle

“…Abstract Background Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder…”
Get full text