Results 61 to 70 of about 291,310 (259)
KIDS COUNT Indicator Brief: Preventing Low Birthweight [PDF]
, 2009 Outlines trends in low birthweight and preterm births and offers prevention strategies such as expanding access to comprehensive health care, ensuring good nutrition for pregnant women, and addressing demographic, social, and environmental risk ...
Barbara Shore, Rima Shore
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Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
, 2009 We’re pleased to announce that Kids Count Alaska is part of a new site, the Kids Count Data Center (datacenter.kidscount.org). Developed by the KIDS COUNT national program, the site gives easy access to data on children and teenagers for every state ...
DeRoche, Patricia +4 more
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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 +41 more
wiley +1 more source
A Correlative Study of An At-Risk Population and Low Birth Weight/Infant Mortality in a Northeast Oklahoma City Community [PDF]
, 1996 Studies show that numerous and complex variables influence pregnancy outcomes and infant mortality rates. These variables include demographic, medical, physical, environmental, behavioral, and attitudinal factors and prenatal care.
Thrower, Estacia D.
core +1 more source
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 +4 more
wiley +1 more source
Dynamics of Race, Culture and Key Indicators of Health in the Nation's 100 Largest Cities and Their Suburbs [PDF]
, 2003 Profiles the 2000 status of, and changes since 1990, in rates of health and health-related measures to identify patterns in race/ethnicity, foreign-born status, language use, poverty, income, low birth weight, teen births, prenatal care, and ...
Dennis P. Andrulis +2 more
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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 +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source