Results 71 to 80 of about 252,707 (293)

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Neurological assessment of gestational age in newborn. [PDF]

, 1969
Victor Dubowitz
openalex   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Ultrasound Determination of Gestational Age Using Placental Thickness in Female Dogs: An Experimental Study

Veterinary Medicine International, 2012
Objective. To verify if the placental thickness allows determining the gestational age, evaluating the correlation between the referred gestational age with the studied one, and the accuracy of the placental thickness measurement (biometry) with fetal ...
André Luiz Louzada Maldonado, Edward Araujo Júnior, Débora Sartori Mendonça, Luciano Marcondes Machado Nardozza, Antonio Fernandes Moron, Sérgio Aron Ajzen   +5 more
doaj   +1 more source

Auditory brainstem response in neonates: influence of gender and weight/gestational age ratio

Revista Paulista de Pediatria, 2013
OBJECTIVE: To investigate the influence of gender and weight/gestational age ratio on the Auditory Brainstem Response (ABR) in preterm (PT) and term (T) newborns.
Rosanna M. Giaffredo Angrisani, Ana Paula D. Bautzer, Carla Gentile Matas, Marisa Frasson de Azevedo   +3 more
doaj   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

A parsimonious explanation for intersecting perinatal mortality curves: understanding the effect of plurality and of parity

BMC Pregnancy and Childbirth, 2003
Background Birth weight- and gestational age-specific perinatal mortality curves intersect when compared across categories of maternal smoking, plurality, race and other factors. No simple explanation exists for this paradoxical observation.
Sauve Reg, Dzakpasu Susie, Ananth Cande V, Platt Robert W, Wen Shi, Demissie Kitaw, Joseph KS, Liu Shiliang, Allen Alexander C, Kramer Michael S   +9 more
doaj   +1 more source

Gestational Age, Size, and Maturity [PDF]

, 1967

openalex   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Studies of the Irradiation Protection Effect of Fetal Liver in Mice. I. Influence of the Gestational Age of the Donor Tissue [PDF]

, 1961
Paul N. Tschetter, John H. Githens, Mișu Moscovici   +2 more
openalex   +1 more source