Results 291 to 300 of about 840,795 (338)

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

Growth Charts for Children With Beckwith–Wiedemann Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas, Peter Lauffer, Guido Cocchi, Madison DeMarchis, Andrew M. George, Alessandro Mussa, Francesco Pellegrino, Alexander M. J. Spaans, Emma C. van den Brink, Jan M. Wit, Leonie A. Menke, Jennifer M. Kalish   +11 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Identification of Transdiagnostic Childhood Externalizing Pathology Within an Electronic Medical Records Database and Application to the Analysis of Rare Copy Number Variation

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 4, June 2025.
ABSTRACT Externalizing traits and behaviors are broadly defined by impairments in self‐regulation and impulse control that typically begin in childhood and adolescence. Externalizing behaviors, traits, and symptoms span a range of traditional psychiatric diagnostic categories.
India A. Reddy, Lide Han, Sandra Sanchez‐Roige, Maria Niarchou, Douglas M. Ruderfer, Lea K. Davis   +5 more
wiley   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

American Journal of Medical Genetics Part A, EarlyView.
Leanne de Kock, Macarena Nougues, Madeline Couse, Wendy Mears, Alison J. Eaton, Kristin D. Kernohan, Care4Rare Canada Consortium, Margarita Larralde, Kym M. Boycott   +8 more
wiley   +1 more source

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Chromosome arm painting probes

Nature Genetics, 1996
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Jiang, Y, Trent, J, Meltzer, P, Guan, XY, Zhang, H, Bittner, M   +5 more
openaire   +4 more sources

Comparative painting of mammalian chromosomes

Current Opinion in Genetics & Development, 1997
Comparative chromosome painting has shown that synteny has been conserved for large segments of the genome in various placental mammals. Advances such as spectral karyotyping and multicolour 'bar coding' lend speed and precision to comparative molecular cytogenetics. Reciprocal chromosome painting and hybridizations with probes such as yeast artificial
J. WIENBERG, STANYON, ROSCOE ROBERT
openaire   +4 more sources

[Comparative chromosome painting].

Genetika, 2002
The review of the data on comparative chromosomal painting in mammals is presented. The development of new molecular-cytogenetic methods has resulted in the accumulation of the detailed information on homology of chromosomal segments of more than 50 species from 11 orders.
Elena Alkalaeva, Grafodatskiĭ As, Polina L. Perelman, Vladimir A. Trifonov   +3 more
openaire   +3 more sources