Results 181 to 190 of about 157,517 (293)

Autosomal dominant polycystic kidney disease: an overview of recent genetic and clinical advances. [PDF]

Ren Fail
Borghol AH, Bou Antoun MT, Hanna C, Salih M, Rahbari-Oskoui FF, Chebib FT.   +5 more
europepmc   +1 more source

Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.

, 1993
Ching‐Hwa Sung, Carol Davenport, Jeremy Nathans   +2 more
openalex   +1 more source

Autosomal dominant Alport syndrome linked to the type IV collage 3 and 4 genes (COL4A3 and COL4A4) [PDF]

, 1997
J. Ashley Jefferson, Henny H. Lemmink, A Hughes, Claire Hill, H. Smeets, C. Doherty, Alexander P. Maxwell   +6 more
openalex   +1 more source

A rare case of colonic adenocarcinoma in a pediatric patient

JPGN Reports, EarlyView.
Abstract Lynch syndrome (LS) is an autosomal dominant condition caused by a loss of function in the deoxyribonucleic acid mismatch repair system. This case report presents a 17‐year‐old male with abdominal pain, weight loss, and anemia who was diagnosed with LS‐associated adenocarcinoma of the colon in the setting of a mutS homolog 6 genetic mutation ...
Christine Kaba, Kelsey Chatman, Nicole Hames, Jose E. Velazquez Vega, Hillary Bashaw   +4 more
wiley   +1 more source

Cardiac manifestations of autosomal dominant polycystic kidney disease. [PDF]

Eur Heart J Imaging Methods Pract
Dugar F, Pradella M, Kessel-Schaefer A, Kettnaker P, Haaf P.   +4 more
europepmc   +1 more source

Retinal Function and Rhodopsin Levels in Autosomal Dominant Retinitis Pigmentosa With Rhodopsin Mutations

, 1991
Samuel G. Jacobson, C.M. Kemp, Ching-Hwa Sung, Jeremy Nathans   +3 more
openalex   +1 more source

Autosomal dominant cataracts of the fetus: early detection by transvaginal ultrasound [PDF]

, 1996
Ana Monteagudo, Ilan E. Timor‐Tritsch, Alan H. Friedman, Ricarda Maria dos Santos   +3 more
openalex   +1 more source

Pyridostigmine as treatment for chronic gastrointestinal dysmotility in a child with Mowat‐Wilson syndrome: A case report and literature review

JPGN Reports, EarlyView.
Abstract Gastrointestinal dysmotility is commonly reported among patients with Mowat‐Wilson syndrome (MWS) and poses a significant symptomatic burden. Unfortunately, there remains a knowledge gap regarding effective treatment strategies. A 2‐year‐old male with MWS presented with chronic paradoxical abdominal pain, constipation, and progressively ...
Grace J. Lin, Shreya B. Kishore, Sally Samaan, Lisa S. Hackett, Kevan Jacobson, Gabriella Horvath   +5 more
wiley   +1 more source

A Diagnosis or a Trap: Exploring the Psychosocial and Ethical Impacts of Autosomal Dominant Polycystic Kidney Disease Diagnosis. [PDF]

Healthcare (Basel)
Türk M, Gül CB.
europepmc   +1 more source

The clinical and genetic heterogeneity of autosomal dominant cataract [PDF]

, 1996
Alexander Ionides, Vanita Berry, Tony Moore, Shomi Bhattacharya, Alan Shiels   +4 more
openalex   +1 more source