Results 171 to 180 of about 36,061 (316)

894 Differentiation between pathologic and physiologic left ventricular dilatation [PDF]

European Journal of Echocardiography, 2005
openaire   +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

Desmosine in Aortic Disease: Biology, Measurement, and Clinical Applications in Aortic Pathologies. [PDF]

J Clin Med
Gombert A, Mohapatra SR, Frankort JM, Uhl C, Doukas P.   +4 more
europepmc   +1 more source

Studies on the etiology and pathology of proventricular dilatation disease

, 2003
Studies were undertaken to characterize virus like particles (VLPs) that have been observed in the feces of psittacine birds with proventricular dilatation disease (PDD). To determine if the VLPs have any association with the disease, fecal samples were collected from 24 PDD and 8 non-PDD birds and were examined by electron microscopy.
openaire   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Evaluation of the Effect of Rectal Dilatation on Bowel Function by Sagittal CT Imaging. [PDF]

In Vivo
Yamasawa K, Kawahara H, Fujii S, Tsukazaki Y, Matsumoto T, Hirabayashi T, Omura N.   +6 more
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Diagnosis of malignant pleural effusion using thoracoscopy combined with confocal endomicroscopy: a case report. [PDF]

Am J Transl Res
Ye S, Feng Y, Zhu S, Yuan M, Song C, Yang Z, Hu Y, Ni J.   +7 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Released Granulocytic Elastase [PDF]

, 1985
Duswald, Karl-Heimo, Fritz, Hans, Jochum, Marianne, Schramm, Wolfgang   +3 more
core