Results 281 to 290 of about 237,110 (353)

Pediatric intestinal pseudo‐obstruction found in 3‐year‐old male with Rett‐related mutation of methyl‐CpG binding protein 2

JPGN Reports, EarlyView.
Abstract A 3‐year‐old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo‐obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam.
Angela Tran, Namrata Patel‐Sanchez
wiley   +1 more source

Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility? [PDF]

Genes (Basel)
Carrer A, Crupano FM, Rinaldi B, Scuvera G, Cesaretti C, Nicotra V, Gangi S, Colombo L, Araimo G, Tagliabue M, Marchetti D, Pezzoli L, Garzo M, Accurti V, Volpe G, Boito S, Finelli P, Fumagalli M, Bedeschi MF, Iascone M, Persico N, Natacci F.   +21 more
europepmc   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Genetic Variants in DVL3 are Associated With Root Maldevelopment, Tooth Agenesis, Mesiodens, and Oral Exostoses. [PDF]

Int Dent J
Kantaputra P, Bunpiem N, Guven Y, Tripuwabhrut K, Kalayci T, Imren E, Sengtae N, Pianmee C, Pruksametanan A, Tongsima S, Ngamphiw C, Kawasaki K, Ohazama A, Cairns JRK.   +13 more
europepmc   +1 more source

TREM2 variants in Alzheimer\u27s disease [PDF]

, 2013
Benitez, Bruno, Cai, Yefei, Carrell, David, Cooper, Breanna, Cruchaga, Carlos, et al,, Goate, Alison, Morris, John C   +7 more
core   +1 more source

Whole exome sequencing suggests that mutations in known glaucoma genes do not contribute to pigmentary dispersion syndrome

, 2017
Baojian Fan, Kevin Linkroum, Dan Yi Wang, E. DelBono, John Simmons Borchert, Louis R. Pasquale, Janey L. Wiggs   +6 more
openalex   +1 more source

Gastrointestinal strictures in a pediatric patient with Satoyoshi syndrome

JPGN Reports, EarlyView.
Abstract We present a novel case of gastrointestinal strictures in a young girl with Satoyoshi syndrome (SS), highlighting multi‐system features of alopecia universalis, painful muscle cramps with dystonia, aberrant growth velocity, and skeletal abnormalities.
Katherine (Tusia) Pohoreski, Gary Galante, Kiera Pajunen, Marie‐Anne Brundler, Samarjeet Bhandal, Iwona Wrobel   +5 more
wiley   +1 more source

Measuring the health benefits of genome and exome sequencing: a systematic review of economic evaluations. [PDF]

Front Public Health
Riccio M, Rosso A, Siena LM, Baccolini V, Migliara G, Sciurti A, Isonne C, Iera J, Pierri F, Marzuillo C, De Vito C, La Torre G, Villari P.   +12 more
europepmc   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source