-
1
-
-
0842327784
-
Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden
-
Oskarsdottir S, Vujic M & Fast A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Archives of Disease in Childhood 2004 89 148-151.
-
(2004)
Archives of Disease in Childhood
, vol.89
, pp. 148-151
-
-
Oskarsdottir, S.1
Vujic, M.2
Fast, A.3
-
2
-
-
0141458167
-
Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome
-
Yamagishi H & Srivastava D. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends in Molecular Medicine 2003 9 383-389.
-
(2003)
Trends in Molecular Medicine
, vol.9
, pp. 383-389
-
-
Yamagishi, H.1
Srivastava, D.2
-
3
-
-
22144493861
-
Defining the clinical spectrum of deletion 22q11.2
-
Robin N & Shprintzen R. Defining the clinical spectrum of deletion 22q11.2. The Journal of Pediatrics 2005 147 90-96.
-
(2005)
The Journal of Pediatrics
, vol.147
, pp. 90-96
-
-
Robin, N.1
Shprintzen, R.2
-
4
-
-
0000025287
-
Discussions on a new concept of the cellular basis of immunity
-
DiGeorges AM. Discussions on a new concept of the cellular basis of immunity. The Journal of Pediatrics 1965 37 389-394.
-
(1965)
The Journal of Pediatrics
, vol.37
, pp. 389-394
-
-
DiGeorges, A.M.1
-
6
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oeschler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown, Beermer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Stewart F, Van Essen T, Patton M, Patterson J & Scambler PJ. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. Journal of Medical Genetics 1997 34 798-804.
-
(1997)
Journal of Medical Genetics
, vol.34
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
Philip, N.4
Levy, A.5
Seidel, H.6
Schuffenhauer, S.7
Oeschler, H.8
Belohradsky, B.9
Prieur, M.10
Aurias, A.11
Raymond, F.L.12
Clayton-Smith, J.13
Hatchwell, E.14
McKeown Beermer, F.A.15
Dallapiccola, B.16
Novelli, G.17
Hurst, J.A.18
Ignatius, J.19
Green, A.J.20
Winter, R.M.21
Brueton, L.22
Brondum-Nielsen, K.23
Stewart, F.24
Van Essen, T.25
Patton, M.26
Patterson, J.27
Scambler, P.J.28
more..
-
7
-
-
0038020123
-
Parathyroid function and growth in 22q11.2 deletion syndrome
-
Brauner R, Le Harivel de Gonneville A, Kindermans C, Le Bidois J, Prieur M, Lyonnet S & Souberbielle JC. Parathyroid function and growth in 22q11.2 deletion syndrome. The Journal of Pediatrics 2003 142 504-508.
-
(2003)
The Journal of Pediatrics
, vol.142
, pp. 504-508
-
-
Brauner, R.1
Le Harivel de Gonneville, A.2
Kindermans, C.3
Le Bidois, J.4
Prieur, M.5
Lyonnet, S.6
Souberbielle, J.C.7
-
9
-
-
6344233335
-
A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism
-
Maalouf NM, Sakhaee K & Odvina V. A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism. The Journal of Clinical Endocrinology & Metabolism 2004 89 4817-4820.
-
(2004)
The Journal of Clinical Endocrinology & Metabolism
, vol.89
, pp. 4817-4820
-
-
Maalouf, N.M.1
Sakhaee, K.2
Odvina, V.3
-
10
-
-
0025080192
-
Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome
-
Carey AH, Roach S, Williamson R, Dumanski JP, Nordenskjold M, Collins VP, Rouleau G, Blin N, Jalbert P & Scambler PJ. Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome. Genomics 1990 7 299-306.
-
(1990)
Genomics
, vol.7
, pp. 299-306
-
-
Carey, A.H.1
Roach, S.2
Williamson, R.3
Dumanski, J.P.4
Nordenskjold, M.5
Collins, V.P.6
Rouleau, G.7
Blin, N.8
Jalbert, P.9
Scambler, P.J.10
-
11
-
-
0025796855
-
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
-
Scambler PJ, Carey AH, Wyse RKH, Roach S, Dumanski JP, Nordenskjold M & Williamson R. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 1991 10 201-206.
-
(1991)
Genomics
, vol.10
, pp. 201-206
-
-
Scambler, P.J.1
Carey, A.H.2
Wyse, R.K.H.3
Roach, S.4
Dumanski, J.P.5
Nordenskjold, M.6
Williamson, R.7
-
12
-
-
0026750771
-
A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
-
Driscoll DA, Budarf ML & Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. American Journal of Medical Genetics 1992 50 924-933.
-
(1992)
American Journal of Medical Genetics
, vol.50
, pp. 924-933
-
-
Driscoll, D.A.1
Budarf, M.L.2
Emanuel, B.S.3
-
13
-
-
0035746375
-
Endocrine aspects of the 22q11.2 deletion syndrome
-
Weinzimer SA. Endocrine aspects of the 22q11.2 deletion syndrome. Genetics in Medicine 2001 3 19-22.
-
(2001)
Genetics in Medicine
, vol.3
, pp. 19-22
-
-
Weinzimer, S.A.1
-
14
-
-
0033033492
-
The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
-
McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Haher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS & Zackai EH. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genetic Counselling 1999 10 11-24.
-
(1999)
Genetic Counselling
, vol.10
, pp. 11-24
-
-
McDonald-McGinn, D.M.1
Kirschner, R.2
Goldmuntz, E.3
Sullivan, K.4
Eicher, P.5
Gerdes, M.6
Moss, E.7
Solot, C.8
Wang, P.9
Jacobs, I.10
Handler, S.11
Knightly, C.12
Haher, K.13
Wilson, M.14
Ming, J.E.15
Grace, K.16
Driscoll, D.17
Pasquariello, P.18
Randall, P.19
Larossa, D.20
Emanuel, B.S.21
Zackai, E.H.22
more..
-
17
-
-
0029913444
-
Transient congenital hypoparathyroidism: Resolution and recurrence in chromosome 22q11 deletion
-
Greig F, Paul E, DiMartino-Nardi J & Saenger P. Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion. The Journal of Pediatrics 1996 128 563-567.
-
(1996)
The Journal of Pediatrics
, vol.128
, pp. 563-567
-
-
Greig, F.1
Paul, E.2
DiMartino-Nardi, J.3
Saenger, P.4
-
18
-
-
0029873947
-
Latent hypoparathyroidism in children with conotruncal cardiac defects
-
Cuneo BF, Langman CB, Ilbawi MN, Ramakrishan V, Cutilletta A & Driscoll DA. Latent hypoparathyroidism in children with conotruncal cardiac defects. Circulation 1996 93 1702-1708.
-
(1996)
Circulation
, vol.93
, pp. 1702-1708
-
-
Cuneo, B.F.1
Langman, C.B.2
Ilbawi, M.N.3
Ramakrishan, V.4
Cutilletta, A.5
Driscoll, D.A.6
-
19
-
-
0024217407
-
Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate
-
Gidding SS, Minciotti AL & Langman CB. Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate. New England Journal of Medicine 1988 319 1589-1591.
-
(1988)
New England Journal of Medicine
, vol.319
, pp. 1589-1591
-
-
Gidding, S.S.1
Minciotti, A.L.2
Langman, C.B.3
-
20
-
-
0038697384
-
Hypoparathyroid and 22q11 deletion syndrome
-
Taylor SC, Morris G, Wilson D, Davies SJ & Gregory JW. Hypoparathyroid and 22q11 deletion syndrome. Archives of Disease in Childhood 2003 88 520-522.
-
(2003)
Archives of Disease in Childhood
, vol.88
, pp. 520-522
-
-
Taylor, S.C.1
Morris, G.2
Wilson, D.3
Davies, S.J.4
Gregory, J.W.5
-
21
-
-
0036009315
-
Hypoparathyroidism in conotruncal heart defects
-
Koch A, Hofbeck M, Buheitel G, Dorr HG, Rauch A & Singer H. Hypoparathyroidism in conotruncal heart defects. European Journal of Pediatrics 2002 161 208-211.
-
(2002)
European Journal of Pediatrics
, vol.161
, pp. 208-211
-
-
Koch, A.1
Hofbeck, M.2
Buheitel, G.3
Dorr, H.G.4
Rauch, A.5
Singer, H.6
-
23
-
-
14444275052
-
Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion
-
Adachi M, Tachibana K, Masuno M, Makita Y, Maesaka H, Okada T, Hizukuri K, Imaizumi K, Kuroki Y, Kurahashi H & Suwa S. Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. European Journal of Pediatrics 1998 157 34-38.
-
(1998)
European Journal of Pediatrics
, vol.157
, pp. 34-38
-
-
Adachi, M.1
Tachibana, K.2
Masuno, M.3
Makita, Y.4
Maesaka, H.5
Okada, T.6
Hizukuri, K.7
Imaizumi, K.8
Kuroki, Y.9
Kurahashi, H.10
Suwa, S.11
-
25
-
-
0030987690
-
Craniofacial morphology of conotruncal anomaly face syndrome
-
Kitano I, Park S, Kato K, Nitta N, Takato T & Susami T. Craniofacial morphology of conotruncal anomaly face syndrome. Cleft Palate Craniofacial Journal 1997 34 425-429.
-
(1997)
Cleft Palate Craniofacial Journal
, vol.34
, pp. 425-429
-
-
Kitano, I.1
Park, S.2
Kato, K.3
Nitta, N.4
Takato, T.5
Susami, T.6
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