Results 171 to 180 of about 3,437 (296)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Complications after medullary thyroid carcinoma surgery: multicentre study of the SQRTPA and EUROCRINE® databases

BJS (British Journal of Surgery), EarlyView., 2020
This study investigated postoperative complications after surgery for medullary thyroid carcinoma (MTC) in Europe. Hypoparathyroidism, recurrent laryngeal nerve palsy and bleeding requiring reoperation occurred in 170 (26·2 per cent), 62 (13·7 per cent) and 17 (2·6 per cent) patients respectively.
D.‐J. van Beek, M. Almquist, A. O. Bergenfelz, T. J. Musholt, E. Nordenström, on behalf of the EUROCRINE® Council, M. Almquist, M. Barczynski, L. Brunaud, T. Clerici, M. H. Hansen, M. Iacobone, Ö. Makay, F. F. Palazzo, N. Muñoz‐Pérez, M. Raffaelli, P. Riss, S. van Slycke, M. R. Vriens   +18 more
wiley   +1 more source

Unlocking the potential of other effective area-based conservation measures (OECMs) for achieving conservation targets: A global scoping review. [PDF]

Ambio
Petza D, Amorim E, Lamine EB, Colloca F, Dominguez Crisóstomo E, Fabbrizzi E, Fraschetti S, Galparsoro I, Giakoumi S, Kruse M, Stelzenmüller V, Katsanevakis S.   +11 more
europepmc   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Pesticide and pharmaceutical pollution in South Africa: a review of sources, impacts, and policy gaps. [PDF]

Environ Monit Assess
Amaechi JM, Chow R, Petrik L, Jovanovic N.   +3 more
europepmc   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Towards improved ecosystem service assessments in marine systems: A systematic review and evaluation of effectiveness. [PDF]

Ambio
Socrate J, Armoskaite A, Cordero Penín V, Gutierrez D, von Thenen M.   +4 more
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Turning the EU's agricultural vision into environmental action: A performance-oriented CAP after 2027. [PDF]

Ambio
Heyl K, Garske B, Stubenrauch J, Ehlers K.   +3 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source