Results 101 to 110 of about 270,926 (339)

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

The association between coronavirus disease 2019 vaccination during pregnancy and neonatal health outcomes

Pediatric Investigation
Importance Pregnant women have a higher risk of severe illness or complications due to a severe acute respiratory syndrome coronavirus 2 infection. To reduce these risks, pregnant women are advised to coronavirus disease 2019 (COVID‐19) vaccination ...
Petra J. Woestenberg, Veronique Y. F. Maas, Lieke C. M. Vissers, Nadia M. B. Oliveri, Agnes C. Kant, Maud deFeijter   +5 more
doaj   +1 more source

Morbidity and Mortality in small for gestational age very low birth weight infants in a middle-income country [PDF]

, 2022
Objective: To evaluate the impact of small for gestational age on outcomes of very low birth weight infants at Groote Schuur Hospital, Cape Town, South Africa.
Mangiza, Marcia
core   +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

Risk Factors for Small-for-Gestational-age and Preterm Births among 19,269 Tanzanian Newborns. [PDF]

, 2016
Few studies have differentiated risk factors for term-small for gestational age (SGA), preterm-appropriate for gestational age (AGA), and preterm-SGA, despite evidence of varying risk of child mortality and poor developmental outcomes.
A Sania, ACC Lee, Alfa Muhihi, AT Papageorghiou, Christina Briegleb, Christopher R. Sudfeld, D Rush, Emily R. Smith, Grace Jean-Yee Chan, GS Berkowitz, H Blencowe, H Blencowe, H Masanja, Honorati Masanja, J Katz, J Van Roosmalen, K Kramer, K Panaretto, M Carolan, M Heaman, MD Kogan, MI Hernández, MJ Rijken, Mohamed Bakari, MS Kramer, N Kozuki, O Esimai, P Christian, Ramadhani A. Noor, Salum Mshamu, T Rodrigues, Wafaie Fawzi, Y Yogev   +32 more
core   +2 more sources

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

Detection of the small for gestational age fetus

Ceylon Medical Journal, 2011
A reliable SFH chart should be developed for Sri Lanka, and serial SFH measurement emphasised DOI: http://dx.doi.org/10.4038/cmj.v48i2.3366 CMJ 2003; 48(2): 39 ...
openaire   +4 more sources

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source

Maternal serum placental growth factor combined with second trimester aneuploidy screening to predict small-for-gestation neonates without preeclampsia

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: To investigate the role of maternal serum placenta growth factor (PlGF) and quadruple test parameters in predicting the risk of small for gestational age (SGA) infants of mothers without preeclampsia.
Su Mi Kim, Hang Goo Yun, Ra Yon Kim, Yoo Hyun Chung, Ju Young Cheon, Jeong Ha Wie, Ji Young Kwon, Hyun Sun Ko, Yeon Hee Kim, Eun Hee Han, Joon Hong Park, Hyun Jung Kim, Myung Shin Kim, Jong Chul Shin, In Yang Park   +14 more
doaj   +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