Results 181 to 190 of about 218,782 (270)

Bleb revision and transscleral cyclophotocoagulation for congenital glaucoma patient with Turner syndrome and <i>DMPK</i> gene mutation: a case report. [PDF]

Int J Ophthalmol
Guo AQ, Zhang WJ, Hong Y, Zhang C.
europepmc   +1 more source

Chromosomal fragility and human genetic disorders

, 2000
Sujatha Baskaran, Vani Brahmachari
openalex   +2 more sources

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus [PDF]

, 2003
Nicola Ragge, Claire Hartley, AM Dearlove, Jerilyn A. Walker, I Russell‐Eggitt, Christopher M. Harris   +5 more
openalex   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Automated karyogram analysis for early detection of genetic and neurodegenerative disorders: a hybrid machine learning approach. [PDF]

Front Comput Neurosci
Tabassum S, Khan MJ, Iqbal J, Waris A, Ijaz MA.   +4 more
europepmc   +1 more source

Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR [PDF]

, 2003
M.A. Hultén, S Dhanjal, Barbara Pertl
openalex   +1 more source

Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Individuals with an extra X or Y chromosome (sex chromosome trisomy or SCT) have an increased risk for symptoms of psychopathology and neurocognitive dysfunction. In this study, we evaluated the contribution of family history (FH) of neuropsychiatric or neurocognitive disorders to the phenotype of SCT. One hundred and six children with SCT and
Sophie van Rijn, Kimberly Kuiper, Hanna Swaab   +2 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic analyses of a rare 15q21.3 and 16p11.2 microduplication family. [PDF]

Mol Cytogenet
Zhang F, Liao G, Wen X, Zhang C.
europepmc   +1 more source

Mutation analysis of SYNJ1: a possible candidate gene for chromosome 21q22-linked bipolar disorder

, 2001
Takuya Saito, Feifei Guan, Demitri F. Papolos, Stephanie Lau, Marjorie H. Klein, Cathy S.J. Fann, Herbert M. Lachman   +6 more
openalex   +1 more source

Pleiotropic Effects of a Chromosome 3 Locus on Speech-Sound Disorder and Reading [PDF]

, 2004
Catherine M. Stein, James H. Schick, H. Gerry Taylor, Lawrence D. Shriberg, Christopher J. Millard, Amy Kundtz-Kluge, Karlie Russo, Nori Minich, Amy J. Hansen, Lisa Freebairn, Robert C. Elston, Barbara Lewis, Sudha K. Iyengar   +12 more
openalex   +1 more source