Results 71 to 80 of about 1,061,856 (251)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Targeted decrease of portal hepatic pressure gradient improves ascites control after TIPS
Hepatology, EarlyView., 2022 The river diagram demonstrates that after transjugular intrahepatic portosystemic shunt insertion (TIPS) the majority of patients without ascites and 50% of the patients with ascites detectable at ultrasound, show the best response in the long term follow‐up.
Alexander Queck +14 more
wiley +1 more source
, 2004 This review was commissioned by the Crisis Pregnancy Agency to inform their work in the area of prevention of crisis pregnancy. The review commences with a brief description of the current epidemiological data on teenage pregnancy and adolescent ...
Fullerton, Deirdre
core
Psychological effects of abortion on women: a review of the literature [PDF]
, 2007 The psychological effects of abortion have been the subject of scientific investigation, as well as public debate internationally, for several decades and have generated a great deal of discussion, as well as some controversy.
Fine-Davis, Margaret
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
Abdominal pregnancy: a case report [PDF]
, 2004 This is a report of a case of abdominal pregnancy (a rare condition). Lack of antenatal care resulted in late presentation. Persistent abdominal pain, weight loss and pallor were the main clinical features.
EI Nwobodo
core +2 more sources
Мать и дитя в КузбассеAbdominal pregnancy is a rare form of ectopic pregnancy that usually leads to an unfavorable outcome due to difficulties in timely diagnosis and should be detected early during routine antenatal examination.
Лариса Егоровна Фетищева +6 more
doaj
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
Hepatology Communications, EarlyView., 2022 Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring +70 more
wiley +1 more source