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Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. ( 19606488
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Carter M.T....Boycott K.M.
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2009 |
| 2 |
Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22). ( 17100195
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Balci S....Baltaci V.
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2006 |
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Case of CATCH 22 syndrome complicated with pseudohypoparathyroidism and unilateral renal aplasia. ( 11982886
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Miyane S....Onishi S.
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2002 |
| 4 |
Pulmonary arterial aneurysm with CATCH 22 syndrome--a case report. ( 11716333
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Kinoshita O....Matsumoto .
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2001 |
| 5 |
Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome). ( 11720799
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Roubertie A....Echenne B.
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2001 |
| 6 |
Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. ( 10053009
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Funke B....Morrow B.E.
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1999 |
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UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. ( 9063746
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Pizzuti A....Dallapiccola B.
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1997 |
| 8 |
Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. ( 8803768
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Jaeken J....De Zegher F.
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1996 |
| 9 |
Trisomy 22 syndrome in a 26-year-old female--A follow-up examination. ( 7216826
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AnnerAcn G....Gustavson K.H.
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1981 |
| 10 |
Ocular movement disturbances in a family with trisomy 22 syndrome. ( 4730727
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SebestyAcn J....MAches K.
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1973 |
| 11 |
The question of trisomy 22 syndrome. ( 5091263
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Goodman R.M....Sadan N.
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1971 |
