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Items: 1 to 20 of 117

1.

Branchial arch defects and 19p13.12 microdeletion: defining the critical region into a 0.8 M base interval.

Kosaki K, Saito H, Kosaki R, Torii C, Kishi K, Takahashi T.

Am J Med Genet A. 2011 Sep;155A(9):2212-4. doi: 10.1002/ajmg.a.33908. Epub 2011 Aug 3.

PMID:
21815246
2.

Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.

Fraser FC, Ling D, Clogg D, Nogrady B.

Am J Med Genet. 1978;2(3):241-52.

PMID:
263442
3.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.

Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM.

J Med Genet. 2007 Sep;44(9):556-61. Epub 2007 Jun 1.

4.

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.

Thienpont B, Dimitriadou E, Theodoropoulos K, Breckpot J, Fryssira H, Kitsiou-Tzeli S, Tzoufi M, Vermeesch JR, Syrrou M, Devriendt K.

Eur J Med Genet. 2009 Nov-Dec;52(6):393-7. doi: 10.1016/j.ejmg.2009.09.005. Epub 2009 Sep 17.

PMID:
19772953
5.

Branchial arch anomalies in trisomy 18.

Verloes A, Seret N, Bernier V, Gonzales M, Herens C, Koulischer L.

Ann Genet. 1991;34(1):22-4.

PMID:
1952786
6.

From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature.

Senel E, Kocak H, Akbiyik F, Saylam G, Gulleroglu BN, Senel S.

J Pediatr Surg. 2009 Mar;44(3):623-5. doi: 10.1016/j.jpedsurg.2008.10.034. Review.

PMID:
19302870
7.

Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.

Al-Kateb H, Hahn A, Gastier-Foster JM, Jeng L, McCandless SE, Curtis CA.

Am J Med Genet A. 2010 Dec;152A(12):3148-53. doi: 10.1002/ajmg.a.33738. Review.

PMID:
21108400
9.

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.

Jelsig AM, Brasch-Andersen C, Kibæk M, Fagerberg CR.

Eur J Med Genet. 2012 Oct;55(10):564-7. doi: 10.1016/j.ejmg.2012.06.009. Epub 2012 Jun 30.

PMID:
22750323
10.

Clinical comparison of overlapping deletions of 19p13.3.

Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, Tepperberg JH, Papenhausen P, Tan TY, Andrieux J, Plessis G, Amor DJ, Keitges EA.

Am J Med Genet A. 2013 May;161A(5):1110-6. doi: 10.1002/ajmg.a.35923.

PMID:
23610052
11.

A novel microdeletion/microduplication syndrome of 19p13.13.

Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B.

Genet Med. 2010 Aug;12(8):503-11. doi: 10.1097/GIM.0b013e3181e59291.

PMID:
20613546
12.

Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.

Archer HL, Gupta S, Enoch S, Thompson P, Rowbottom A, Chua I, Warren S, Johnson D, Ledbetter DH, Lese-Martin C, Williams P, Pilz DT.

Am J Med Genet A. 2005 Jul 1;136(1):38-44. Review.

PMID:
15937949
13.

Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p.

Meschede D, Exeler R, Wittwer B, Horst J.

Am J Med Genet. 1998 Dec 28;80(5):443-7.

PMID:
9880206
14.

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

Huynh MT, Tosca L, Petit F, Martinovic J, Proust A, Bouligand J, Amiel J, Azria E, Parisot F, Benoit V, Receveur A, Drévillon L, Tachdjian G, Brisset S.

Eur J Med Genet. 2018 Jun;61(6):322-328. doi: 10.1016/j.ejmg.2018.01.009. Epub 2018 Feb 3.

PMID:
29366875
15.

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z.

Am J Med Genet A. 2011 Jan;155A(1):203-6. doi: 10.1002/ajmg.a.33766.

PMID:
21204233
16.

De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)].

Lo BH, Murch A, Chabros V, Withnell R.

J Paediatr Child Health. 1996 Aug;32(4):347-9.

PMID:
8844544
17.
18.

Mild developmental delay in terminal chromosome 6p deletion.

Chen KM, Cherry AM, Hahn JS, Enns GM.

Am J Med Genet A. 2004 Aug 30;129A(2):201-5.

PMID:
15316977
19.

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Buttè C, Memo L, Capovilla G, Neri G.

Am J Hum Genet. 2003 Mar;72(3):590-7. Epub 2003 Jan 30.

20.

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.

Bens S, Haake A, Tönnies H, Vater I, Stephani U, Holterhus PM, Siebert R, Caliebe A.

Eur J Med Genet. 2011 Sep-Oct;54(5):e501-4. doi: 10.1016/j.ejmg.2011.05.004. Epub 2011 Jun 7.

PMID:
21700002

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