Publications - Page 23 of 29 - ERN ITHACA

Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability

Bruel A-L, Vitobello A, Tran Mau-Them F, Nambot S, Sorlin A, Denommé-Pichon A-S, Delanne J, Moutton S, Callier P, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C

Clinical genetics. 2020;98(5):433–44.
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations

Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau‐Van‐Kien P, Smol T, Vincent‐Delorme C, Isidor B, Cogné B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin‐Olympiade C, Giraudat K, Piton A, Gérard B, Odent S, Tessier F, Lemasson L, Heide S, Gelineau A, Sarret C, Miret A, Schaefer E, Piard J, Mathevet R, Boucon M, Bruel A, Mau‐Them FT, Chevarin M, Vitobello A, Philippe C, Thauvin‐Robinet C, Faivre L

Clinical Genetics. 2021 Mar 15;99(3):407–17.
Defining the phenotypical spectrum associated with variants in TUBB2A

Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Bahi-Buisson N, Meuwissen M, Jansen AC, Stouffs K

Journal of Medical Genetics. 2021 Jan;58(1):33–40.
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of...

Geerts‐Haages A, Bossuyt SN v., Besten I, Bruggenwirth H, Burgt I, Yntema HG, Punt AM, Brooks A, Elgersma Y, Distel B, Valstar M

Molecular Genetics & Genomic Medicine. 2020 Nov 5;8(11).
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications

Moravikova J, Honzik T, Jadvidzakova E, Zdrahalova K, Kremlikova Pourova R, Korbasova M, Liskova P, Dudakova L

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2020;24(6):352.e1-352.e5.
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

Brinkmann J, Lissewski C, Pinna V, Vial Y, Pantaleoni F, Lepri F, Daniele P, Burnyte B, Cuturilo G, Fauth C, Gezdirici A, Kotzot D, Güleç EY, Iotova V, Schanze D, Ramond F, Havlovicová M, Utine GE, Simsek-Kiper PO, Stoyanova M, Verloes A, de Luca A, Tartaglia M, Cavé H, Zenker M

European journal of human genetics : EJHG. 2021;29(3):524–7.
Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

Habib R, Kim R, Neitzel H, Demuth I, Chrzanowska K, Seemanova E, Faber R, Digweed M, Voss R, Jäger K, Sperling K, Walter M

Aging. 2020 Jun 20;12(12):12342–75
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes

Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R

Annals of human genetics. 2020;84(5):380–92.
The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis

Geryk J, Krsička D, Vlčková M, Havlovicová M, Macek M, Kremlíková Pourová R

Metabolites. 2020 May 6;10(5).
Assisted Reproductive Techniques and Pregnancy Results in Women with Mayer-Rokitansky-Küster-Hauser Syndrome Undergoing Uterus Transplantation: the Czech Experience

Chmel R, Cekal M, Pastor Z, Chmel R, Paulasova P, Havlovicova M, Macek M, Novackova M

Journal of pediatric and adolescent gynecology. 2020 Aug;33(4):410–4.