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Literature DB >> 8728708

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

E Hatchwell.

Abstract

Mesh：

Year: 1996 PMID： 8728708 PMCID： PMC1051887 DOI： 10.1136/jmg.33.3.261

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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9 in total

1. Chromosomal deletion and retinoblastoma.

Authors: A G Knudson; A T Meadows; W W Nichols; R Hill
Journal: N Engl J Med Date: 1976-11-11 Impact factor: 91.245

2. Inflammatory linear verrucous epidermal nevus (ILVEN) in a mother and her daughter.

Authors: H Hamm; R Happle
Journal: Am J Med Genet Date: 1986-08

3. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

Authors: M L Budarf; B A Konkle; L B Ludlow; D Michaud; M Li; D J Yamashiro; D McDonald-McGinn; E H Zackai; D A Driscoll
Journal: Hum Mol Genet Date: 1995-04 Impact factor: 6.150

4. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

Authors: J Goodship; I Cross; P Scambler; J Burn
Journal: J Med Genet Date: 1995-09 Impact factor: 6.318

5. Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation.

Authors: J L Crosby; D S Varnum; J H Nadeau
Journal: Am J Hum Genet Date: 1993-05 Impact factor: 11.025

6. Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.

Authors: S E Holder; R M Winter; S Kamath; P J Scambler
Journal: J Med Genet Date: 1993-10 Impact factor: 6.318

7. Cerebellar atrophy in a patient with velocardiofacial syndrome.

Authors: D R Lynch; D M McDonald-McGinn; E H Zackai; B S Emanuel; D A Driscoll; L A Whitaker; K H Fischbeck
Journal: J Med Genet Date: 1995-07 Impact factor: 6.318

8. Upper limb malformations in DiGeorge syndrome.

Authors: V Cormier-Daire; L Iserin; D Théophile; D Sidi; C Vervel; J P Padovani; M Vekemans; A Munnich; S Lyonnet
Journal: Am J Med Genet Date: 1995-03-13

9. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.

Authors: R E Nickel; D A Pillers; M Merkens; R E Magenis; D A Driscoll; B S Emanuel; J Zonana
Journal: Am J Med Genet Date: 1994-10-01

9 in total

Review 1. Genetic insights into schizophrenia.

Authors: A S Bassett; E W Chow; D M Waterworth; L Brzustowicz
Journal: Can J Psychiatry Date: 2001-03 Impact factor: 4.356

2. Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.

Authors: D Johnson; N Morrison; L Grant; T Turner; J Fantes; J M Connor; V Murday
Journal: J Med Genet Date: 2005-08-23 Impact factor: 6.318

Review 3. 22q11 deletion syndrome: a genetic subtype of schizophrenia.

Authors: A S Bassett; E W Chow
Journal: Biol Psychiatry Date: 1999-10-01 Impact factor: 13.382

4. Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

Authors: Jaime J Barea; Eline van Meel; Stuart Kornfeld; Lynne M Bird
Journal: Am J Med Genet A Date: 2015-06-24 Impact factor: 2.802

5. Discovery of variants unmasked by hemizygous deletions.

Authors: Ron Hochstenbach; Martin Poot; Isaac J Nijman; Ivo Renkens; Karen J Duran; Ruben Van't Slot; Ellen van Binsbergen; Bert van der Zwaag; Maartje J Vogel; Paulien A Terhal; Hans Kristian Ploos van Amstel; Wigard P Kloosterman; Edwin Cuppen
Journal: Eur J Hum Genet Date: 2012-01-18 Impact factor: 4.246