Results 121 to 130 of about 202,891 (344)

Head Circumference and IQ in Duchenne MD

Pediatric Neurology Briefs, 1991
The head circumferences of 64 patients with Duchenne muscular dystrophy were greater than normal and the intellectual performance tested by the Wechsler was significantly impaired in a study performed at The Royal Liverpool Children’s Hospital, Alder Hey,
J Gordon Millichap
doaj   +1 more source

Mendelian randomization suggests that head circumference, but not birth weight and length, associates with intelligence

, 2021
Qian Li, Fengjie Gao, Bin Yan, Lihong Yang, Wei Wang, Ling Bai, Xiancang Ma, Jian Yang   +7 more
openalex   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Higher fracture prevalence and smaller bone size in patients with hEDS/HSD-a prospective cohort study

, 2020
Increased fracture risk in patients with Ehlers-Danlos syndromes has been reported, but the reasons for it are incompletely understood. We aimed to investigate possible determinants of this increased risk and found that hEDS/HSD patients present with a ...
Banica, Thiberiu, Calders, Patrick, Coussens, Marie, De Wandele, Inge, Goemaere, Stefan, Lapauw, Bruno, Malfait, Fransiska, Rombaut, Lies, Verroken, Charlotte, Zmierczak, Hans-Georg   +9 more
core   +1 more source

EP13.44: Comparative assessment of antenatal growth charts in estimating head circumference centiles in Indian population [PDF]

, 2023
Sri Phani Krishna Karri
openalex   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

New cross sectional stature, weight, and head circumference references for Down's syndrome in the UK and Republic of Ireland [PDF]

, 2002
Maggie Styles
openalex   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Emergent velocity agreement in robot networks [PDF]

, 2011
In this paper we propose and prove correct a new self-stabilizing velocity agreement (flocking) algorithm for oblivious and asynchronous robot networks. Our algorithm allows a flock of uniform robots to follow a flock head emergent during the computation
Canepa, Davide, Défago, Xavier, Izumi, Taisuke, Potop-Butucaru, Maria   +3 more
core   +3 more sources