Results 91 to 100 of about 5,469,442 (208)

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

Parental Right to Determine Whether to Use Aggressive Treatment for an Early Gestational Age Infant: The Messenger Case

, 1997
Manslaughter charges were brought against Dr. Gregory Messenger, a Michigan (USA) dermatologist, for removing his extremely premature infant son from a ventilator in the neonatal intensive care unit.
Paris, John J.
core  

Risk ratios for Term-Small-for-Gestational-Age, Neonatal Mortality: Southern Nepal (reference: Term-Appropriate-for-Gestational-Age).

, 2014
Risk ratios for Term-Small-for-Gestational-Age, Neonatal Mortality: Southern Nepal (reference: Term-Appropriate-for-Gestational-Age).
Joanne Katz (240437), Christian L. Coles (538712), Naoko Kozuki (538713), James M. Tielsch (264479), Anne C. C. Lee (233251), Lauren A. Wu (538711), Luke C. Mullany (356466)   +6 more
core   +1 more source

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

Exploring reference ranges for thyroid-stimulating hormone in neonatal screening tests for preterm infants: a 5-year retrospective study

Frontiers in Pediatrics
PurposeCurrently, the same thyroid-stimulating hormone (TSH) cutoffs are used for term and preterm infants. Our objective was to determine TSH reference ranges and cut-off values for preterm infants born at different gestational ages (GA), birth weight ...
Xing Huang, Xing Huang, Fei Xiong, Fei Xiong, Shulan Zhu, Shulan Zhu, Fan Yang, Fan Yang   +7 more
doaj   +1 more source

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Risk ratios for Preterm-Small-for-Gestational-Age, Neonatal Mortality: Southern Nepal (reference: Term-Appropriate-for-Gestational-Age).

, 2014
Risk ratios for Preterm-Small-for-Gestational-Age, Neonatal Mortality: Southern Nepal (reference: Term-Appropriate-for-Gestational-Age).
Joanne Katz (240437), Christian L. Coles (538712), Naoko Kozuki (538713), James M. Tielsch (264479), Anne C. C. Lee (233251), Lauren A. Wu (538711), Luke C. Mullany (356466)   +6 more
core   +1 more source

Temporal trends in pregnancy weight gain and birth weight in Bavaria 2000-2007: slightly decreasing birth weight with increasing weight gain in pregnancy [PDF]

, 2009
Aims: To assess temporal trends in birth weight and pregnancy weight gain in Bavaria from 2000 to 2007. Methods: Data on 695,707 mother and infant pairs (singleton term births) were available from a compulsory reporting system for quality assurance ...
Kries, Rüdiger von, Schiessl, Barbara, Lack, Nicholas, Beyerlein, Andreas   +3 more
core   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

Adjusted risk factors for small for gestational age according to the gestational age ranges.

, 2019
Adjusted risk factors for small for gestational age according to the gestational age ranges.
Min-A Kim (585107), Gwan Hee Han (5828918), Young-Han Kim (2806864)   +2 more
core   +1 more source