Results 131 to 140 of about 284,008 (318)

The influence of environment, activity and gestational age on evaporative water loss [PDF]

, 1979
Gunnar Sedin, Karen Hammarlund, Gert Nilsson, P. Å. Öberg   +3 more
openalex   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Nutrition, sex, gestational age, and hair growth in babies. [PDF]

, 1978
Howard Berger, Jessie King, S. Doughty, B A Wharton   +3 more
openalex   +1 more source

Growth Charts for Children With Beckwith–Wiedemann Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas, Peter Lauffer, Guido Cocchi, Madison DeMarchis, Andrew M. George, Alessandro Mussa, Francesco Pellegrino, Alexander M. J. Spaans, Emma C. van den Brink, Jan M. Wit, Leonie A. Menke, Jennifer M. Kalish   +11 more
wiley   +1 more source

NUTRITION IN SMALL FOR GESTATIONAL AGE INFANTS (SGA): IN VIVO MEASUREMENTS OF BONE MINERALIZATION [PDF]

, 1977
Stephen D. Minton, Jean J. Steichen, Reginald C. Tsang   +2 more
openalex   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Validation of Danish registry‐cases of type 1 diabetes in women giving live birth using a clinical cohort as gold standard

Endocrinology, Diabetes &Metabolism, Volume 6, Issue 1, January 2023., 2023
The aim of this study was to validate type 1 diabetes live births in the Danish national registries against a clinical cohort of confirmed cases.The study concludes that algorithms can reliably identify type 1 diabetes in pregnancy in health registries, with a PPV above 90% and completeness around 80%.
Tina Wullum Gundersen, Andreas Ebbehoj, Sine Knorr, Dorte Møller Jensen, Peter Damm, Ellen Christine Leth Løkkegaard, Elisabeth R. Mathiesen, Reimar W. Thomsen, Tine Dalsgaard Clausen   +8 more
wiley   +1 more source

Trends in Amplitude-Integrated Electroencephalography in the Smallest Preterm Neonates

Children
Background. Amplitude-integrated electroencephalography is increasingly used for the neuromonitoring of premature infants. However, it is still not clear how bioelectrical activity changes in the smallest gestational age newborns.
Kristina Štuikienė, Elke Griesmaier, Ilona Aldakauskienė, Regina Vidmantė, Kastytis Šmigelskas, Rasa Tamelienė   +5 more
doaj   +1 more source

Confirmation of gestational age by external physical characteristics (total maturity score). [PDF]

, 1979
J. I. Cater
openalex   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source