Results 81 to 90 of about 5,960 (128)

Chromosome Microarray Analysis of 3832 Patients over 15 Years Confirms Genome-Wide Copy Number Variation in Patients with Developmental Disabilities Including Autism. [PDF]

Curr Issues Mol Biol
Chaval S, Tonk SS, Wilson GN, Tonk VS.
europepmc   +1 more source

A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and <i>NOTCH3</i>-Related CADASIL. [PDF]

Genes (Basel)
Bogliardi FM, D'Ambrosio P, Quattromini G, Di Mario G, Pomponi MG, Miele L, Vergani E, Zampino G, Liguori A, Zollino M, Crinò A.   +10 more
europepmc   +1 more source

Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review. [PDF]

Int J Womens Health
Mu Y, Jing Y, Liu X, Lin F, He Q, Li Y, Ming X, Chen G, Wang Y, Zhu T.   +9 more
europepmc   +1 more source

Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study. [PDF]

Genes (Basel)
Loukas YL, Anagnostopoulou K, Thodi G, Spanou M, Gavalas C, Molou E, Antonopoulou S, Poulopoulou A, Dotsikas Y, Alvanou M, Tegopoulos K, Pons R, Tziouvas K, Vartzelis G, Skouteli E, Loukatou E, Charitou A, Douros K, Siahanidou S, Giorgi M, Stephanede A, Angeli M, Nikolaidou M, Kokkinou E, Kouri I, Koute V, Frysira E, Dinopoulos A.   +27 more
europepmc   +1 more source

False negativity for trisomy 18 in non-invasive prenatal testing: A case report. [PDF]

Case Rep Womens Health
Andová N, Repiská V, Priščáková P, Gergely L, Hýblová M, Minárik G.   +5 more
europepmc   +1 more source

Molecular evolution of mosaic chromosome 18 copy-number alterations from gametes to hepatoblastoma. [PDF]

JHEP Rep
Cendres E, Cornet M, Gautier Z, Pire A, Urvoy N, Morcrette G, Simaga F, Guimier A, Chardot C, Capito C, Schleiermacher G, Masliah-Planchon J, Pierron G, Taddei I, Stoppa-Lyonnet D, Zucman-Rossi J, Romana S, Aerts I, Hirsch TZ.   +18 more
europepmc   +1 more source

Recurrent Hodgkin's Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review. [PDF]

Diagnostics (Basel)
Szlek C, Punukollu P, Grater L, Ware D, Devoe L, Schlabritz-Lutsevich N, David H, Toussaint W, Maher J.   +8 more
europepmc   +1 more source

Antenatal discovery of mosaic trisomy 14 in an early-onset malformative syndrome. [PDF]

Mol Cytogenet
Martineau R, Fuchs F, Lamouroux A, Ganne B, Wells C.   +4 more
europepmc   +1 more source

New insight about early miscarriage: a prenatal data-based study. [PDF]

J Transl Med
Zhu Y, Liu Y, Ren C, Liu J, Yang Q, Li N, Wang T, Zhang P, Xue J, Ren C, Liu L.   +10 more
europepmc   +1 more source

Case Report: Rare triple-line chromosome 9 mosaicism (47,XX,+del(9)(q13)/47,XX,+9/46,XX) associated with severe neurodevelopmental impairment and congenital anomalies. [PDF]

Front Genet
Zagorac A, Miksić M, Zagradišnik B, Korpar B, Kokalj Vokač N.   +4 more
europepmc   +1 more source