Results 161 to 170 of about 2,442,331 (340)

Mutation profile and chromosomal abnormality in adenomyosis. [PDF]

Reproduction
Suda K, Takahashi K, Tamura R, Saito K, Yamaguchi M, Yachida N, Adachi S, Kase H, Okuda S, Yoshihara K, Nakaoka H.   +10 more
europepmc   +1 more source

IgA-producing lymphoplasmacytic lymphoma carrying the chromosomal abnormality t(8;14). [PDF]

J Clin Exp Hematop, 2019
Gotoh Y, Aoyama Y, Tsunemine H, Idei Y, Mori A, Kodaka T, Iba S, Tomita A, Itoh T, Takahashi T.   +9 more
europepmc   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

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, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics. [PDF]

BMC Med Genomics
Huang Y, Fu S, Shao D, Yao Y, Wu F, Yao M.   +5 more
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

A Rare Case of Chromosomal Abnormality: 19q13.11 Deletion in a Patient With Aplasia Cutis Congenita and Ambiguous Genitalia. [PDF]

Cureus
Srivastava A, Sharma R, Kadam S, Bongurala AR.   +3 more
europepmc   +1 more source

Pre-implantation genetic diagnosis: a case for law reform [PDF]

, 2003
Garwood-Gowers, A
core  

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Sex Offenses: The Medical and Legal Implications of Sex Variations [PDF]

, 1960
Bowman, Karl M., Engle, Bernice
core   +2 more sources

Noninvasive prenatal tests for chromosomal abnormality screening in in vitro fertilisation elderly pregnant women in northwest China. [PDF]

J Med Biochem
Xue S, Wang L, Yu Z, Zhu J, Feng L, Din G, Dai P.   +6 more
europepmc   +1 more source