Results 171 to 180 of about 1,168 (229)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Five new Caenorhabditis species from Indonesia provide exceptions to Haldane's rule and partial fertility of interspecific hybrids. [PDF]

G3 (Bethesda)
Devi MP, Haryoso E, Rais EI, Karuniawan A, Yahya MQ, Richaud A, Wang J, Rockman MV, Tarno H, Félix MA.   +9 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Unveiling the Genome-Wide Consequences of Range Expansion and Mating System Transitions in Primula vulgaris. [PDF]

Genome Biol Evol
Mora-Carrera E, Stubbs RL, Potente G, Yousefi N, Aeschbacher S, Keller B, Choudhury RR, Celep F, Kochjarová J, de Vos JM, Szövényi P, Conti E.   +11 more
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Floral Biology, Breeding System and Conservation Implications for the Azorean Endemic <i>Azorina vidalii</i> (Campanulaceae). [PDF]

Plants (Basel)
Correia Rego RM, Caperta AD, Moura M, Silva L, Roxo G, Resendes R, Olangua-Corral M.   +6 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Tiny but significant: on the importance of thrips as pollinators. [PDF]

Ann Bot
Pop C, Terry I, Mound LA, van der Kooi CJ.   +3 more
europepmc   +1 more source

Pollinator-dependence and specialization in three sunbird-pollinated, fire-stimulated flowering species. [PDF]

Plant Biol (Stuttg)
Mantintsilili A, Seymour CL, Geerts S, Coetzee A.   +3 more
europepmc   +1 more source

Stamens enclosed by petals in Berchemia (Rhamnaceae): a unique mechanism for pollen presentation. [PDF]

Front Plant Sci
Ma F, Zhao Q, Tian X, Fu YL, Liu WZ.
europepmc   +1 more source