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Year Number of Results
1992 1
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2003 4
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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 …
Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
Elaraby NM, Ahmed HA, Ashaat NA, Tawfik S, Ahmed MKH, Hassib NF, Ashaat EA. Elaraby NM, et al. J Mol Neurosci. 2022 Nov;72(11):2242-2251. doi: 10.1007/s12031-022-02074-y. Epub 2022 Oct 17. J Mol Neurosci. 2022. PMID: 36251212 Free PMC article. Review.
Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on chromosome 21. ...Our patient was presented with typical clinical manifestations of the disease in addition to new phenotypic f …
Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gen …
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 …
Donnai-Barrow syndrome: four additional patients.
Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E. Chassaing N, et al. Am J Med Genet A. 2003 Sep 1;121A(3):258-62. doi: 10.1002/ajmg.a.20266. Am J Med Genet A. 2003. PMID: 12923867 Review.
In 1993, Donnai and Barrow reported a new syndrome in two sets of sibs and in an unrelated child, including diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness. ...This report firmly establishes this syndrome as a dis …
In 1993, Donnai and Barrow reported a new syndrome in two sets of sibs and in an unrelated child, including diaphragmatic hernia, exo …
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.
The homozygous or compound heterozygous mutations of G6PC3 are responsible for most cases of autosomal recessive SCN4. Herein, we present two cases of SCN4 affected by novel mutations in the G6PC3, in addition to a summarized list of variants in G6PC3 gene that are reporte …
The homozygous or compound heterozygous mutations of G6PC3 are responsible for most cases of autosomal recessive SCN4. Herein, we pre …
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 …
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 …
Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review.
James PA, Aftimos S. James PA, et al. Clin Dysmorphol. 2003 Jan;12(1):63-8. doi: 10.1097/00019605-200301000-00012. Clin Dysmorphol. 2003. PMID: 12514369 Review.
The child was diagnosed on prenatal ultrasound and was found to have the previously unreported prenatal finding of an omphalocoele. Twenty-eight cases of familial CCMS are reviewed. Families suggestive of autosomal recessive and autosomal dominant inheritance …
The child was diagnosed on prenatal ultrasound and was found to have the previously unreported prenatal finding of an omphalocoele. T …
Recurrence of diaphragmatic agenesis associated with multiple midline defects: evidence for an autosomal gene regulating the midline.
Bird LM, Newbury RO, Ruiz-Velasco R, Jones MC. Bird LM, et al. Am J Med Genet. 1994 Oct 15;53(1):33-8. doi: 10.1002/ajmg.1320530108. Am J Med Genet. 1994. PMID: 7802033 Review.
Opitz and Gilbert [Am J Med Genet 1982, 12:443-455] introduced the concept of the midline as a developmental field, and there have been reports of pedigrees compatible with the hypothesis of an X-linked gene regulating the development of the midline. This family suggests that an …
Opitz and Gilbert [Am J Med Genet 1982, 12:443-455] introduced the concept of the midline as a developmental field, and there have been repo …
13 results