144 related articles for article (PubMed ID: 34797032)
21. A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications.
Petrin AL; Daack-Hirsch S; L'Heureux J; Murray JC
Cleft Palate Craniofac J; 2011 Mar; 48(2):222-30. PubMed ID: 20500065
[TBL] [Abstract][Full Text] [Related]
22. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L; Yao S; Brems H; Callens T; Sathienkijkanchai A; Denayer E; Spencer E; Arn P; Babovic-Vuksanovic D; Bay C; Bobele G; Cohen BH; Escobar L; Eunpu D; Grebe T; Greenstein R; Hachen R; Irons M; Kronn D; Lemire E; Leppig K; Lim C; McDonald M; Narayanan V; Pearn A; Pedersen R; Powell B; Shapiro LR; Skidmore D; Tegay D; Thiese H; Zackai EH; Vijzelaar R; Taniguchi K; Ayada T; Okamoto F; Yoshimura A; Parret A; Korf B; Legius E
JAMA; 2009 Nov; 302(19):2111-8. PubMed ID: 19920235
[TBL] [Abstract][Full Text] [Related]
23. Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.
Butler MG
J Intellect Disabil Res; 2017 Jun; 61(6):568-579. PubMed ID: 28387067
[TBL] [Abstract][Full Text] [Related]
24. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?
Van-Gils J; Harambat J; Jubert C; Vidaud D; Llanas B; Perel Y; Lacombe D; Goizet C
Eur J Med Genet; 2014; 57(11-12):639-42. PubMed ID: 25234363
[TBL] [Abstract][Full Text] [Related]
25. Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.
Smith RB; Solem EP; Metz EC; Wheeler FC; Phillips JA; Yenamandra A
Am J Med Genet A; 2021 Apr; 185(4):1222-1227. PubMed ID: 33415784
[TBL] [Abstract][Full Text] [Related]
26. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.
Ekvall S; Sjörs K; Jonzon A; Vihinen M; Annerén G; Bondeson ML
Am J Med Genet A; 2014 Mar; 164A(3):579-87. PubMed ID: 24357598
[TBL] [Abstract][Full Text] [Related]
27. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Chen LF; Wang W
Taiwan J Obstet Gynecol; 2017 Dec; 56(6):821-826. PubMed ID: 29241927
[TBL] [Abstract][Full Text] [Related]
28. [Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion].
Lin S; Wu J; Zhang Z; Ji Y; Fang Q; Chen B; Luo Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):212-5. PubMed ID: 27060318
[TBL] [Abstract][Full Text] [Related]
29. Genetics of neurofibromatosis 1 and the NF1 gene.
Viskochil D
J Child Neurol; 2002 Aug; 17(8):562-70; discussion 571-2, 646-51. PubMed ID: 12403554
[TBL] [Abstract][Full Text] [Related]
30. Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up.
Serra G; Antona V; Giuffré M; Li Pomi F; Lo Scalzo L; Piro E; Schierz IAM; Corsello G
Ital J Pediatr; 2021 Sep; 47(1):196. PubMed ID: 34583755
[TBL] [Abstract][Full Text] [Related]
31. Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg.
Friedrich RE; Hagel C; Kohlrusch FK; Schanze I; Wieland I; Zenker M
Anticancer Res; 2020 Jun; 40(6):3423-3427. PubMed ID: 32487640
[TBL] [Abstract][Full Text] [Related]
32. NF1 microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1.
Lopes J; Teixeira D; Sousa C; Baptista A; Osório Ferreira E
Acta Dermatovenerol Alp Pannonica Adriat; 2020 Jun; 29(2):85-87. PubMed ID: 32566957
[TBL] [Abstract][Full Text] [Related]
33. The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.
Leppig KA; Viskochil D; Neil S; Rubenstein A; Johnson VP; Zhu XL; Brothman AR; Stephens K
Cytogenet Cell Genet; 1996; 72(1):95-8. PubMed ID: 8565646
[TBL] [Abstract][Full Text] [Related]
34. Neurofibromatosis type 1 (NF1): diagnosis and management.
Ferner RE; Gutmann DH
Handb Clin Neurol; 2013; 115():939-55. PubMed ID: 23931823
[TBL] [Abstract][Full Text] [Related]
35. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A; Rosano C; Pannone L; Pinna V; Assunto A; Motta M; Ugga L; Daniele P; Mandile R; Mariniello L; Siano MA; Santoro C; Piluso G; Martinelli S; Strisciuglio P; De Luca A; Tartaglia M; Melis D
Clin Genet; 2021 Nov; 100(5):563-572. PubMed ID: 34346503
[TBL] [Abstract][Full Text] [Related]
36. Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.
Tzschach A; Grasshoff U; Schäferhoff K; Bonin M; Dufke A; Wolff M; Haas-Lude K; Bevot A; Riess O
Am J Med Genet A; 2012 Jul; 158A(7):1709-12. PubMed ID: 22639460
[TBL] [Abstract][Full Text] [Related]
37. Neurofibromatosis type 1 revisited.
Williams VC; Lucas J; Babcock MA; Gutmann DH; Korf B; Maria BL
Pediatrics; 2009 Jan; 123(1):124-33. PubMed ID: 19117870
[TBL] [Abstract][Full Text] [Related]
38. Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome.
Lay-Son G; Palomares M; Guzman ML; Vasquez M; Puga A; Repetto GM
Int J Pediatr Otorhinolaryngol; 2012 Dec; 76(12):1726-8. PubMed ID: 22939891
[TBL] [Abstract][Full Text] [Related]
39. NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.
Muram-Zborovski TM; Vaughn CP; Viskochil DH; Hanson H; Mao R; Stevenson DA
Am J Med Genet A; 2010 Aug; 152A(8):1973-8. PubMed ID: 20602485
[TBL] [Abstract][Full Text] [Related]
40. Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register.
Brøndum-Nielsen K; Christensen K
Clin Genet; 1996 Sep; 50(3):116-20. PubMed ID: 8946108
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]