Results 191 to 200 of about 2,572 (290)

Radiation Hormesis in Barley Manifests as Changes in Growth Dynamics Coordinated with the Expression of PM19L-like, CML31-like, and AOS2-like. [PDF]

Int J Mol Sci
Kazakova E, Gorbatova I, Khanova A, Shesterikova E, Pishenin I, Prazyan A, Podlutskii M, Blinova Y, Bitarishvili S, Bondarenko E, Smirnova A, Lychenkova M, Bondarenko V, Korol M, Babina D, Makarenko E, Volkova P.   +16 more
europepmc   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Dementia is our "biggest expanding caseload": Core learning for student speech and language therapists. [PDF]

PLoS One
Volkmer A, Alyahya RSW, Atkinson HP, Bose A, Britton H, Collins L, Earing K, Farraday J, Hansjee D, Heritage M, Mackenzie S, Pratten S, Tattersall C, Underdown D, Virgilio A, Withford-Eaton N, Gauch M, Talbot R, Kindell J.   +18 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Echocardiography to the Rescue in Adult-Onset Partial Shone Complex. [PDF]

CASE (Phila)
Saldana G, Mazzone S, Ganigara M, Earing M, Yamat M, Bembry D, Slivnick JA.   +6 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Salicylic and succinic acids as inducers of phytoimmunity in winter wheat for the management of powdery mildew (Blumeria graminis (DC) Speer f. sp. tritici). [PDF]

BMC Plant Biol
Nyzhnyk T, Kiedrzyński M, Kiedrzyńska E, Kots S.   +3 more
europepmc   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Study of the rice yield variations under water saving scenarios using DSSAT crop model. [PDF]

PLoS One
Hsieh CY, Chen H, Wu YC, Teng CY, Li CH.
europepmc   +1 more source