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Quoted phrase not found in phrase index: "Omphalocele, autosomal"
Page 1
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Valayannopoulos V, et al. Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. Orphanet J Rare Dis. 2010. PMID: 20385007 Free PMC article. Review.
Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is …
Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing …
Syndromes, disorders and maternal risk factors associated with neural tube defects (VII).
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2. Taiwan J Obstet Gynecol. 2008. PMID: 18935989 Free article. Review.
This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonc …
This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocom …
Congenital hypothyroidism clinical aspects and late consequences.
Büyükgebiz A. Büyükgebiz A. Pediatr Endocrinol Rev. 2003 Dec;1 Suppl 2:185-90; discussion 190. Pediatr Endocrinol Rev. 2003. PMID: 16444157 Review.
Inborn errors of thyroid hormonogenesis are responsible for 10-15% of CH cases and usually have autosomal recessive inheritance, consistent with a single gene mutation. ...CH neonates are usually symptom-free and the most encountered symptoms are prolonged jaundice, large …
Inborn errors of thyroid hormonogenesis are responsible for 10-15% of CH cases and usually have autosomal recessive inheritance, cons …
Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.
Meyer RE, Liu G, Gilboa SM, Ethen MK, Aylsworth AS, Powell CM, Flood TJ, Mai CT, Wang Y, Canfield MA; National Birth Defects Prevention Network. Meyer RE, et al. Am J Med Genet A. 2016 Apr;170A(4):825-37. doi: 10.1002/ajmg.a.37495. Epub 2015 Dec 10. Am J Med Genet A. 2016. PMID: 26663415 Free PMC article.
Trisomy 13 (T13) and trisomy 18 (T18) are among the most prevalent autosomal trisomies. Both are associated with a very high risk of mortality. ...Omphalocele and congenital heart defects were associated with an increased risk of death for children with T18 but not …
Trisomy 13 (T13) and trisomy 18 (T18) are among the most prevalent autosomal trisomies. Both are associated with a very high risk of …
Familial omphalocele: considerations in genetic counseling.
Pryde PG, Greb A, Isada NB, Johnson MB, Klein M, Evans MI. Pryde PG, et al. Am J Med Genet. 1992 Nov 15;44(5):624-7. doi: 10.1002/ajmg.1320440519. Am J Med Genet. 1992. PMID: 1481822 Review.
We report on a patient in whom 5 consecutive pregnancies (by 2 separate nonconsanguineous partners) were complicated by omphalocele as an isolated defect. Neither the patient nor her partners had history of relatives with omphalocele, although the patient's brother …
We report on a patient in whom 5 consecutive pregnancies (by 2 separate nonconsanguineous partners) were complicated by omphalocele a …
Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.
Maroufi SF, Shaka Z, Mojtabavi H, Sadeghalvad M, Rayzan E, Sedighi I, Shahkarami S, Najafi M, Rohlfs M, Klein C, Rezaei N. Maroufi SF, et al. Endocr Metab Immune Disord Drug Targets. 2021;21(9):1660-1668. doi: 10.2174/1871530321666210616110631. Endocr Metab Immune Disord Drug Targets. 2021. PMID: 34137364 Review.
CASE PRESENTATION: Herein, we present two cases of SCN4; the first case was a three-months old boy with severe neutropenia and prior history of hospitalization due to umbilical separation, umbilical herniation, omphalitis, and pyelonephritis; and the second case was …
CASE PRESENTATION: Herein, we present two cases of SCN4; the first case was a three-months old boy with severe neutropenia and prior history …
Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome.
Veenstra-Knol HE, Kleibeuker A, Timmer A, ten Kate LP, van Essen AJ. Veenstra-Knol HE, et al. Am J Med Genet A. 2003 Dec 15;123A(3):243-8. doi: 10.1002/ajmg.a.20308. Am J Med Genet A. 2003. PMID: 14608644 Review.
Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, genital abnormalities, and typical face with short palpebral fissures, ankyloblepharon, hypopla …
Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases …
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.
Mine J, Taketani T, Yoshida K, Yokochi F, Kobayashi J, Maruyama K, Nanishi E, Ono M, Yokoyama A, Arai H, Tamaura S, Suzuki Y, Otsubo S, Hayashi T, Kimura M, Kishi K, Yamaguchi S. Mine J, et al. Dev Med Child Neurol. 2015 Apr;57(4):372-7. doi: 10.1111/dmcn.12617. Epub 2014 Oct 30. Dev Med Child Neurol. 2015. PMID: 25356525 Free article.
Seven patients had been misdiagnosed with other disorders such as epilepsy and adult-onset anxiety neurosis. Umbilical/inguinal hernias were seen in 10 patients. Life-threatening events were noted in four patients. ...Mutations in the GLRA1 and GLRB genes were identified i …
Seven patients had been misdiagnosed with other disorders such as epilepsy and adult-onset anxiety neurosis. Umbilical/inguinal herni …
Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review.
Peña-Padilla C, Viramontes-Aguilar L, Tavares-Macías G, Bobadilla-Morales L, L Cunningham M, Park S, Zapata-Aldana E, Corona-Rivera JR. Peña-Padilla C, et al. Fetal Pediatr Pathol. 2019 Oct;38(5):412-417. doi: 10.1080/15513815.2019.1603256. Epub 2019 Apr 19. Fetal Pediatr Pathol. 2019. PMID: 31002276
Background: Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. ...Conclusions: We suggest that the "prune belly" anomaly and others abdominal wall defects as omphalocele and sca …
Background: Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially de …
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?
Brunetti-Pierri N, Piccolo P, Morava E, Wevers RA, McGuirk M, Johnson YR, Urban Z, Dishop MK, Potocki L. Brunetti-Pierri N, et al. Clin Dysmorphol. 2011 Apr;20(2):77-81. doi: 10.1097/MCD.0b013e3283439676. Clin Dysmorphol. 2011. PMID: 21285876 Free PMC article.
Cutis laxa is a connective tissue disorder with distinctive lax, redundant, and inelastic skin. It is a genetically heterogenous disorder with autosomal dominant and recessive patterns of inheritance. We report a patient with cutis laxa supported by clinical, microscopic, …
Cutis laxa is a connective tissue disorder with distinctive lax, redundant, and inelastic skin. It is a genetically heterogenous disorder wi …
16 results