Results 101 to 110 of about 86,851,642 (308)

Size at birth: an examination of meaning and usefulness. A prospective study of a cohort of infants born in Nepal [PDF]

, 2009
Background: Low birth weight (LBW) remains a major public health problem in developing countries, but is only one measure of size at birth. Others include small-for-gestational-age (SGA) and low ponderal index (PI).
Vaidya, A.
core  

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

Evaluation of Bone Mineral Density with Quantitative Ultrasonography in Small for Gestational Age Preterm Infant

, 2020
Aim: To compare serial tibial speed of sound (SOS) values of small-for-gestational age (SGA) versus appropriate-for-gestational age (AGA) preterm ...
KORKMAZ, LEVENT, GÜNEŞ, TAMER, Korkut, Sabriye, Orturk, Mehmet Adnan, KURTOĞLU, Selim, Ozdemir, Ahmet, Bastug, Osman, Halis, Hulya   +7 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

The associations of parity and maternal age with small-for-gestational-age, preterm, and neonatal and infant mortality: A meta-analysis

, 2013
The associations of parity and maternal age with small-for-gestational-age, preterm, and neonatal and infant mortality: A meta ...
F Barros (13313226), J Tielsch (13313211), D Osrin (7798367), N Kozuki (13313154), MF Silveira (15900695), A Mongkolchati (13313184), A Sania (13313205), A Vaidya (9892823), AC Lee (7787918), Josh Vogel (13077579), J Humphrey (13313229), RE Black (15794333), L Adair (13282146), P Christian (10834092), R Ntozini (13313232), J Katz (13313148), D Roberfroid (13313199), L Huybregts (13313172), W Fawzi (13313169), LE Caulfield (15900698)   +19 more
core  

Small for gestational age is not a diagnosis [PDF]

Ultrasound in Obstetrics & Gynecology, 1999
P W, Soothill, C S, Bobrow, R, Holmes
openaire   +2 more sources

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

Prenatal prediction of very late onset small-for-gestational age newborns in low-risk pregnancies

, 2022
Prompt identification and correct management of late onset small-for-gestational age newborns can reduce perinatal morbidity and mortality. Given the limitations of current monitoring methods, additional strategies are needed.
Eugenia Antolín Alvarado (10860316), Marta Duque Alcorta (12300901), Giovanna Martín-Palumbo (10860307), Vangeliya Blagoeva Atanasova (10860310), José Luis Bartha (10860319), María Teresa Rego Tejeda (10860313)   +5 more
core   +1 more source

Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha, Leticia Dinatto, Kirsten Meagher, Colleen Guimond, Jan M. Friedman, Peter C. Stirling, Millan S. Patel   +6 more
wiley   +1 more source

Symphysis-fundal height to identify large-for-gestational-age and macrosomia: a meta-analysis

, 2019
Bivariate diagnostic meta-analysis was performed to evaluate the diagnostic value of symphysis-fundal height (SFH) for identifying large-for-gestational- age (LGA) (i.e. birth weight >90th centile according to gestational age) and macrosomia (i.e.
Eita Goto (8101688)
core   +1 more source