Results 191 to 200 of about 860,858 (291)

Non-visualization of the Gallbladder on Ultrasound: Magnetic Resonance Cholangiopancreatography (MRCP) Confirmation of Congenital Gallbladder Agenesis. [PDF]

Cureus
Ghulman OH, Ghulman MB, Mimish R, Krimly MA.   +3 more
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Recurrent Spontaneous Chylopericardium Treated by Thoracic Duct Embolization. [PDF]

JACC Case Rep
Bobrowski D, Rajan D, O'Leary C, Edwards J.   +3 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Effects of the bile duct bifurcation angle and position of the living donor on biliary complications in recipients after living donor liver transplantation. [PDF]

BMC Surg
Kimura T, Umemura A, Nitta H, Katagiri H, Ihara Y, Kanno S, Takeda D, Ando T, Amano S, Kawashima T, Kikuchi K, Sasaki A.   +11 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

Intra-operative detection of cholecystohepatic duct during cholecystectomy: a case report. [PDF]

J Surg Case Rep
Bowman MA, Ziaziaris WA, Joseph DM, Pulitano C, Crawford MD, Laurence JM.   +5 more
europepmc   +1 more source

[Anatomy of the bile ducts in cholelithiasis].

Vestnik khirurgii imeni I. I. Grekova, 1984
P V, Trutnev, N, Khadzhiat
openaire   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Radiology for surgeons: liver anatomy. [PDF]

Front Surg
Marcinkevičiūtė K, Šilinskaitė U, Lukšaitė-Lukštė R, Kvietkauskas M.   +3 more
europepmc   +1 more source