Results 211 to 220 of about 255,153 (264)

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

Do babies perceive cries as speech? [PDF]

Dev Cogn Neurosci
Lucarini G, de la Cruz-Pavía I, Gemignani J, Nallet C, Lapillonne A, Gervain J.   +5 more
europepmc   +1 more source

Early Discharge of Newborns

, 1997
Lupatkin, William L., Cook, Joseph V., Davis, Robert L., Cass, Alvah R., Braveman, Paula, Lariviere, Patricia, Shay, David K., Stoddard, Jeffrey J., Williams, David V., Clemens, Conrad J., Jerant, Anthony F., Wetstone, Howard W., Kessel, Woodie, Novack, Alvin H., Liu, Lenna L., Woronick, Charles L., Egerter, Susan, Edmonson, M. Bruce, Epperly, Ted D., Richmond, Julius, Volk, Robert J.   +20 more
core  

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Nationwide TREC/KREC-based newborn screening and clinical outcomes in Japan. [PDF]

J Hum Immun
Nishinosono T, Muramatsu H, Wakamatsu M, Ishige N, Hanai J, Imaizumi T, Ueki M, Sasahara Y, Kawai T, Uejima Y, Yasumi T, Okada S, Eguchi M, Ishimura M, Mizukami T, Yamada M, Ohnishi H, Tajima G, Imai K, Newborn Screening Working Group, Japanese Society for Immunodeficiency and Autoinflammatory Diseases.   +20 more
europepmc   +1 more source

Physicians Criticize Rules on Newborns

, 1984
Collins, Glenn
core  

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Longitudinal Variability of Fecal Calprotectin in Preterm Newborns: A Prospective Cohort Study. [PDF]

Pediatr Rep
Polimeni Cavassin Jayme MA, Okamoto CT, Takei FT, de Oliveira PH, Nisihara EM, Nisihara R.   +5 more
europepmc   +1 more source

Newborns to Be Tested

, 1988
Palca, Joseph
core  

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