Results 211 to 220 of about 3,162,594 (310)

Children's emotion understanding and attachment security to mothers and fathers across the transition to siblinghood. [PDF]

J Fam Psychol
Tan L, Bader LR, Volling BL, Gonzalez R.
europepmc   +1 more source

Maternal Perception vs Actual Breast Milk Supply: Protocol for an Observational Cross-Sectional Study.

JMIR Res Protoc
Bruckner B, Taylor R, Parata C, Haszard J, Taylor B, Bevin S, Gooding K, Heath AL, Katiforis I, Daniels L.   +9 more
europepmc   +1 more source

Identification of de novo variants from parent-proband duos via long-read sequencing. [PDF]

Am J Hum Genet
Boukas L, Délot EC, Pitsava G, Lambert C, Fanslow C, Baybayan P, Belhadj S, Losic B, Harting J, Bluske K, LoTempio J, Al-Kouatly HB, Karam R, Rowell WJ, Xiao C, Vilain E, Berger SI.   +16 more
europepmc   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Birth experience and early postpartum outcomes: A cross-sectional study of mother-infant bonding, breastfeeding self-efficacy, and depressive symptoms. [PDF]

Eur J Midwifery
Naginevičiūtė M, Bartusevičienė E, Blaževičienė A.   +2 more
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Insights into the zebrafish left-right organizer's centrosomes and cilia via volume electron microscopy. [PDF]

Biol Open
Ononiwu F, Adhya AL, Mikolaj M, Dell C, Shamil AW, Narayan K, Hehnly H.   +6 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Traumatic birth experiences and maternal caregiving behaviors and attitudes in black and white women. [PDF]

Arch Womens Ment Health
Kornfield SL, Henry NM, Waller R, White L, Gur R, Myers D, Wisniewski K, Momplaisir F, Njoroge WFM.   +8 more
europepmc   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source