243 related articles for article (PubMed ID: 10592068)
1. 46, XY, del (3) (pter-->p25) syndrome: further delineation of the clinical phenotype.
Benini D; Vino L; Vecchini S; Fanos V
Eur J Pediatr; 1999 Dec; 158(12):955-7. PubMed ID: 10592068
[TBL] [Abstract][Full Text] [Related]
2. A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.
Del Refugio Rivera-Vega M; Gómez-Del Angel LA; Valdes-Miranda JM; Pérez-Cabrera A; Gonzalez-Huerta LM; Toral-López J; Cuevas-Covarrubias S
Cytogenet Genome Res; 2015; 145(1):1-5. PubMed ID: 25870946
[TBL] [Abstract][Full Text] [Related]
3. De novo direct duplication 3 (p25-->pter): a previously undescribed chromosomal aberration.
Kotzot D; Krüger C; Braun-Quentin C
Clin Genet; 1996 Aug; 50(2):96-8. PubMed ID: 8937769
[TBL] [Abstract][Full Text] [Related]
4. Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases.
Nienhaus H; Mau U; Zang KD
Am J Med Genet; 1992 Nov; 44(5):573-5. PubMed ID: 1481811
[TBL] [Abstract][Full Text] [Related]
5. 6q1 monosomy: a distinctive syndrome.
Turleau C; Demay G; Cabanis MO; Lenoir G; de Grouchy J
Clin Genet; 1988 Jul; 34(1):38-42. PubMed ID: 3409537
[TBL] [Abstract][Full Text] [Related]
6. A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review.
Kariya S; Aoji K; Akagi H; Fukushima K; Chikumoto E; Ogawa T; Karaki M; Nishizaki K
Int J Pediatr Otorhinolaryngol; 2000 Nov; 56(1):71-8. PubMed ID: 11074119
[TBL] [Abstract][Full Text] [Related]
7. Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.
Titomanlio L; Romano A; Conti A; Genesio R; Salerno M; De Brasi D; Nitsch L; Del Giudice E
Am J Med Genet A; 2004 Jun; 127A(2):197-200. PubMed ID: 15108211
[TBL] [Abstract][Full Text] [Related]
8. A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.
Shoukier M; Wickert J; Schröder J; Bartels I; Auber B; Zoll B; Salinas-Riester G; Weise D; Brockmann K; Zirn B; Burfeind P
Am J Med Genet A; 2012 Jan; 158A(1):229-35. PubMed ID: 22140031
[TBL] [Abstract][Full Text] [Related]
9. Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient.
Caliebe A; Waltz S; Jenderny J
Clin Genet; 1997 Aug; 52(2):116-9. PubMed ID: 9298747
[TBL] [Abstract][Full Text] [Related]
10. Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
Glass IA; Swindlehurst CA; Aitken DA; McCrea W; Boyd E
J Med Genet; 1989 Feb; 26(2):127-30. PubMed ID: 2918541
[TBL] [Abstract][Full Text] [Related]
11. Ophthalmic manifestations of Wolf-Hirschhorn syndrome.
Wu-Chen WY; Christiansen SP; Berry SA; Engel WK; Fray KJ; Summers CG
J AAPOS; 2004 Aug; 8(4):345-8. PubMed ID: 15314595
[TBL] [Abstract][Full Text] [Related]
12. 46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.
Kashevarova AA; Nikitina TV; Mikhailik LI; Belyaeva EO; Vasilyev SA; Lopatkina ME; Fedotov DA; Fonova EA; Zarubin AA; Sivtsev AA; Skryabin NA; Nazarenko LP; Lebedev IN
Genes (Basel); 2020 Dec; 11(12):. PubMed ID: 33316910
[TBL] [Abstract][Full Text] [Related]
13. Filippi syndrome: further clinical characterization.
Battaglia A; Filippi T; Pusceddu S; Williams CA
Am J Med Genet A; 2008 Jul; 146A(14):1848-52. PubMed ID: 18553552
[TBL] [Abstract][Full Text] [Related]
14. 9q34.3 deletion syndrome in three unrelated children.
Iwakoshi M; Okamoto N; Harada N; Nakamura T; Yamamori S; Fujita H; Niikawa N; Matsumoto N
Am J Med Genet A; 2004 Apr; 126A(3):278-83. PubMed ID: 15054842
[TBL] [Abstract][Full Text] [Related]
15. [Partial trisomy 10p in combination with partial monosomy 20p--a syndrome with muscular hypotonia, psychomotor retardation, dwarfism and craniofacial dysmorphia].
Meyer R
Klin Padiatr; 1990; 202(5):352-4. PubMed ID: 2214595
[TBL] [Abstract][Full Text] [Related]
16. Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
Tsoutsou E; Tzetis M; Giannikou K; Syrmou A; Oikonomakis V; Kosma K; Kanioura A; Kanavakis E; Fryssira H
Eur J Paediatr Neurol; 2013 May; 17(3):316-20. PubMed ID: 23352671
[TBL] [Abstract][Full Text] [Related]
17. Seckel syndrome with chromosomal 18 deletion.
Panigrahi I; Kaur S; Kulkarni K; Das R; Marwaha RK
Indian J Pediatr; 2009 Dec; 76(12):1270-1. PubMed ID: 20012807
[TBL] [Abstract][Full Text] [Related]
18. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).
Gorski JL; Cox BA; Kyine M; Uhlmann W; Glover TW
Am J Med Genet; 1989 Mar; 32(3):350-2. PubMed ID: 2729355
[TBL] [Abstract][Full Text] [Related]
19. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.
Swinkels ME; Simons A; Smeets DF; Vissers LE; Veltman JA; Pfundt R; de Vries BB; Faas BH; Schrander-Stumpel CT; McCann E; Sweeney E; May P; Draaisma JM; Knoers NV; van Kessel AG; van Ravenswaaij-Arts CM
Am J Med Genet A; 2008 Jun; 146A(11):1430-8. PubMed ID: 18452192
[TBL] [Abstract][Full Text] [Related]
20. Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.
Narahara K; Kikkawa K; Murakami M; Hiramoto K; Namba H; Tsuji K; Yokoyama Y; Kimoto H
Am J Med Genet; 1990 Feb; 35(2):269-73. PubMed ID: 2178418
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]