Results 271 to 280 of about 3,396,540 (313)

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

Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps. [PDF]

Int J Neonatal Screen
Coliban I, Usurelu N, Opalco I, Gladun S, Sacara V.   +4 more
europepmc   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.

Public Health Genomics
Furuta Y, Agrawal NS, Owen NN, Bastarache LA, Shyr C, Geiger HU, Ponce E, Lauderdale CJ, Carter CR, Morgan KA, Hamid R, Phillips Iii JA, Tinker RJ.   +12 more
europepmc   +1 more source

When Standard Newborn Screening Isn't Enough: Diagnostic Challenges in the Age of Globalization. [PDF]

Clin Case Rep
Ortúzar Menéndez M, Mendiguren LM, Garde Garde MC, Pérez Ollo S, Campion Mezquiriz A, Moreno-Galarraga L.   +5 more
europepmc   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases. [PDF]

Commun Med (Lond)
Tebani A, Guenet D, Torre S, Arion A, Héron B, Brassier A, Belmatoug N, Ausseil J, Bruel H, Lévéque C, Goldenberg A, Gruchy N, Apetrei A, Bach N, Guerrot AM, Samaan S, Ducatez F, Marret S, Bekri S.   +18 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Spinal muscular atrophy with five <i>SMN2</i> copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions. [PDF]

Front Neurol
Parmova O, Adamova B.
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source