Results 231 to 240 of about 848,102 (298)

Analysis of Latent Esophageal Perforation Caused by a Mysteriously Migrated Anterior Cervical Plate Into the Gastrointestinal Tract. [PDF]

Cureus
Sen HE, Gunal O, Kaptanoglu E, Etus V.
europepmc   +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

Hepatic migration of metallic wire from gastrointestinal tract: a rare case report. [PDF]

Ann Med Surg (Lond)
Yan K, Chen J, Li R, Liu C, Li C.
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Erratum for Nachman et al., "Increased fungal burden in the gastrointestinal tract of brain-dead organ donors". [PDF]

Microbiol Spectr
Nachman EJ, Ardis CK, Ardis AKB, Nieto J, Bresson MM, Robertson CM, Seale MN, Villafuerte NM, Lyu Z, Preisner EC, Danhof HA, Di Rienzi SC, Becker YT, Britton RA.   +13 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Regeneration of the Gastrointestinal Tract After Using a Small Intestine Submucosa Patch-A Rat Model. [PDF]

Biomedicines
Toth T, Prisca RA, Szasz EA, Borka-Balas R, Borda A.   +4 more
europepmc   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Cross-phenotype genome-wide association study supports shared genetic etiology between skin and gastrointestinal tract diseases. [PDF]

J Biomed Res
Peng B, Jiang M, Li S, Chen X, Cheng S, Hao X.   +5 more
europepmc   +1 more source

Microbial communities and tight junction protein expression in the gastrointestinal tract of feedlot cattle. [PDF]

Sci Rep
Young JD, Pinnell LJ, Wolfe CA, Scott MA, Lawrence TE, Cavasin JP, Ellis JA, Langsten KL, Richeson JT, Morley PS.   +9 more
europepmc   +1 more source