-
1
-
-
0142146604
-
Syndrome of coloboma with multiple congenital abnormalities in infancy
-
Angelman H. Syndrome of coloboma with multiple congenital abnormalities in infancy. Br Med J. 1961; 1: 1212-1214.
-
(1961)
Br Med J
, vol.1
, pp. 1212-1214
-
-
Angelman, H.1
-
3
-
-
0018348787
-
Choanal atresia and associated multiple anomalies
-
Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr. 1979; 95: 395-398.
-
(1979)
J Pediatr
, vol.95
, pp. 395-398
-
-
Hall, B.D.1
-
4
-
-
0018350904
-
Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation-A syndrome
-
Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation-A syndrome. J Pediatr Ophthalmol Strabismus. 1979; 16: 122-128.
-
(1979)
J Pediatr Ophthalmol Strabismus
, vol.16
, pp. 122-128
-
-
Hittner, H.M.1
Hirsch, N.J.2
Kreh, G.M.3
Rudolph, A.J.4
-
5
-
-
0019425377
-
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: Charge association
-
Pagon RA, Graham JMJr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981; 99: 223-227.
-
(1981)
J Pediatr
, vol.99
, pp. 223-227
-
-
Pagon, R.A.1
Graham, J.M.2
Zonana, J.3
Yong, S.L.4
-
6
-
-
84863872703
-
Mutation update on the chd7 gene involved in charge syndrome
-
Janssen N, Bergman JE, Swertz MA, et al. Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat. 2012; 33: 1149-1160.
-
(2012)
Hum Mutat
, vol.33
, pp. 1149-1160
-
-
Janssen, N.1
Bergman, J.E.2
Swertz, M.A.3
-
7
-
-
0031892284
-
Charge association: An update and review for the primary pediatrician
-
BlakeKD, Davenport SL, HallBDet al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998; 37: 159-173.
-
(1998)
Clin Pediatr (Phila
, vol.37
, pp. 159-173
-
-
Blake, K.D.1
Davenport, S.L.2
Hall, B.D.3
-
8
-
-
14344262552
-
Updated diagnostic criteria for charge syndrome: A proposal
-
Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet A. 2005; 133: 306-308.
-
(2005)
Am J Med Genet A
, vol.133
, pp. 306-308
-
-
Verloes, A.1
-
9
-
-
33645781251
-
Charge syndrome: The phenotypic spectrum of mutations in the chd7 gene
-
Jongmans MC, Admiraal RJ, van der Donk KP, et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006; 43: 306-314.
-
(2006)
J Med Genet
, vol.43
, pp. 306-314
-
-
Jongmans, M.C.1
Admiraal, R.J.2
Van Der Donk, K.P.3
-
10
-
-
31544463054
-
Spectrum of chd7 mutations in 110 individuals with charge syndrome and genotype-phenotype correlation
-
Lalani SR, Safiullah AM, Fernbach SD, et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006; 78: 303-314.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 303-314
-
-
Lalani, S.R.1
Safiullah, A.M.2
Fernbach, S.D.3
-
11
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause charge syndrome
-
Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004; 36: 955-957.
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
Van Ravenswaaij, C.M.2
Admiraal, R.3
-
12
-
-
84863875415
-
A novel classification system to predict the pathogenic effects of chd7 missense variants in charge syndrome
-
Bergman JE, Janssen N, van der Sloot AM, et al. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat. 2012; 33: 1251-1260.
-
(2012)
Hum Mutat
, vol.33
, pp. 1251-1260
-
-
Bergman, J.E.1
Janssen, N.2
Van Der Sloot, A.M.3
-
13
-
-
79955538630
-
Chd7 mutations and charge syndrome: The clinical implications of an expanding phenotype
-
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet. 2011; 48: 334-342.
-
(2011)
J Med Genet
, vol.48
, pp. 334-342
-
-
Bergman, J.E.1
Janssen, N.2
Hoefsloot, L.H.3
Jongmans, M.C.4
Hofstra, R.M.5
Van Ravenswaaij-Arts, C.M.6
-
14
-
-
66049158683
-
Charge (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: A comparison of immunologic and nonimmunologic phenotypic features
-
Jyonouchi S, McDonald-Mcginn DM, Bale S, Zackai EH, Sullivan KE. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics. 2009; 123: e871-e877.
-
(2009)
Pediatrics
, vol.123
, pp. e871-e877
-
-
Jyonouchi, S.1
McDonald-Mcginn, D.M.2
Bale, S.3
Zackai, E.H.4
Sullivan, K.E.5
-
15
-
-
0030728995
-
Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations
-
Comans-Bitter WM, de Groot R, van den Beemd R, et al. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. J Pediatr. 1997; 130: 388-393.
-
(1997)
J Pediatr
, vol.130
, pp. 388-393
-
-
Comans-Bitter, W.M.1
De Groot, R.2
Van Den Beemd, R.3
-
16
-
-
0029014844
-
Charge association in a child with de novo inverted duplication (14)(q22-4q24.3
-
North KN, Wu BL, Cao BN, Whiteman DA, Korf BR. CHARGE association in a child with de novo inverted duplication (14)(q22-4q24.3). Am J Med Genet. 1995; 57: 610-614.
-
(1995)
Am J Med Genet
, vol.57
, pp. 610-614
-
-
North, K.N.1
Wu, B.L.2
Cao, B.N.3
Whiteman, D.A.4
Korf, B.R.5
-
17
-
-
27744468211
-
Immune deficiency in charge association
-
Theodoropoulos DS. Immune deficiency in CHARGE association. Clin Med Res. 2003; 1: 43-48.
-
(2003)
Clin Med Res
, vol.1
, pp. 43-48
-
-
Theodoropoulos, D.S.1
-
18
-
-
78649493570
-
Combined microdeletions and chd7 mutation causing severe charge/digeorge syndrome: Clinical presentation and molecular investigation by array-cgh
-
Kaliakatsos M, Giannakopoulos A, Fryssira H, et al. Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH. J Hum Genet. 2010; 55: 761-763.
-
(2010)
J Hum Genet
, vol.55
, pp. 761-763
-
-
Kaliakatsos, M.1
Giannakopoulos, A.2
Fryssira, H.3
-
19
-
-
16944363108
-
Features of digeorge syndrome and charge association in five patients
-
Lonlay-Debeney P, Cormier-Daire V, Amiel J, et al. Features of DiGeorge syndrome and CHARGE association in five patients. J Med Genet. 1997; 34: 986-989.
-
(1997)
J Med Genet
, vol.34
, pp. 986-989
-
-
Lonlay-Debeney, P.1
Cormier-Daire, V.2
Amiel, J.3
-
20
-
-
1942538141
-
Postnatal thymus transplantation with immunosuppression as treatment for digeorge syndrome
-
Markert ML, Alexieff MJ, Li J, et al. Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome. Blood. 2004; 104: 2574-2581.
-
(2004)
Blood
, vol.104
, pp. 2574-2581
-
-
Markert, M.L.1
Alexieff, M.J.2
Li, J.3
-
21
-
-
11144356685
-
Complete digeorge syndrome: Development of rash, lymphadenopathy, and oligoclonal t cells in 5 cases
-
Markert ML, Alexieff MJ, Li J, et al. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol. 2004; 113: 734-741.
-
(2004)
J Allergy Clin Immunol
, vol.113
, pp. 734-741
-
-
Markert, M.L.1
Alexieff, M.J.2
Li, J.3
-
22
-
-
34247572580
-
Unrelated partially matched lymphocyte infusions in a patient with complete digeorge/charge syndrome
-
Janda A, Sedlacek P, Mejstrikova E, et al. Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome. Pediatr Transplant. 2007; 11: 441-447.
-
(2007)
Pediatr Transplant
, vol.11
, pp. 441-447
-
-
Janda, A.1
Sedlacek, P.2
Mejstrikova, E.3
-
23
-
-
44949125693
-
Mutations in chd7 in patients with charge syndrome cause t-b+natural killer cell+severe combined immune deficiency and may cause omenn-like syndrome
-
Gennery AR, Slatter MA, Rice J, et al. Mutations in CHD7 in patients with CHARGE syndrome cause T-B+natural killer cell+severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol. 2008; 153: 75-80.
-
(2008)
Clin Exp Immunol
, vol.153
, pp. 75-80
-
-
Gennery, A.R.1
Slatter, M.A.2
Rice, J.3
-
24
-
-
0033840055
-
Malakoplakia of the colon in an infant with severe combined immunodeficiency (scid) and charge association
-
Boudny P, Kurrer MO, Stamm B, Laeng RH. Malakoplakia of the colon in an infant with severe combined immunodeficiency (SCID) and charge association. Pathol Res Pract. 2000; 196: 577-582.
-
(2000)
Pathol Res Pract
, vol.196
, pp. 577-582
-
-
Boudny, P.1
Kurrer, M.O.2
Stamm, B.3
Laeng, R.H.4
-
25
-
-
0023886981
-
Chronic enteric virus infection in two t-cell immunodeficient children
-
Wood DJ, David TJ, Chrystie IL, Totterdell B. Chronic enteric virus infection in two T-cell immunodeficient children. J Med Virol. 1988; 24: 435-444.
-
(1988)
J Med Virol
, vol.24
, pp. 435-444
-
-
Wood, D.J.1
David, T.J.2
Chrystie, I.L.3
Totterdell, B.4
-
26
-
-
0033554731
-
Transplantation of thymus tissue in complete digeorge syndrome
-
Markert ML, Boeck A, Hale LP, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med. 1999; 341: 1180-1189.
-
(1999)
N Engl J Med
, vol.341
, pp. 1180-1189
-
-
Markert, M.L.1
Boeck, A.2
Hale, L.P.3
-
27
-
-
0041743085
-
Thymus transplantation in complete digeorge syndrome: Immunologic and safety evaluations in 12 patients
-
Markert ML, Sarzotti M, Ozaki DA, et al. Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood. 2003; 102: 1121-1130.
-
(2003)
Blood
, vol.102
, pp. 1121-1130
-
-
Markert, M.L.1
Sarzotti, M.2
Ozaki, D.A.3
-
28
-
-
8444234981
-
Thymic transplantation for complete digeorge syndrome: Medical and surgical considerations
-
Rice HE, Skinner MA, Mahaffey SM, et al. Thymic transplantation for complete DiGeorge syndrome: medical and surgical considerations. J Pediatr Surg. 2004; 39: 1607-1615.
-
(2004)
J Pediatr Surg
, vol.39
, pp. 1607-1615
-
-
Rice, H.E.1
Skinner, M.A.2
Mahaffey, S.M.3
-
29
-
-
34548773900
-
Immunological abnormalities in charge syndrome
-
Writzl K, Cale CM, Pierce CM, Wilson LC, Hennekam RC. Immunological abnormalities in CHARGE syndrome. Eur J Med Genet. 2007; 50: 338-345.
-
(2007)
Eur J Med Genet
, vol.50
, pp. 338-345
-
-
Writzl, K.1
Cale, C.M.2
Pierce, C.M.3
Wilson, L.C.4
Hennekam, R.C.5
-
30
-
-
34948817731
-
Complete digeorge syndrome associated with chd7 mutation
-
Sanka M, Tangsinmankong N, Loscalzo M, Sleasman JW, Dorsey MJ. Complete DiGeorge syndrome associated with CHD7 mutation. J Allergy Clin Immunol. 2007; 120: 952-954.
-
(2007)
J Allergy Clin Immunol
, vol.120
, pp. 952-954
-
-
Sanka, M.1
Tangsinmankong, N.2
Loscalzo, M.3
Sleasman, J.W.4
Dorsey, M.J.5
-
31
-
-
57249094010
-
Congenital t cell deficiency in a patient with charge syndrome
-
Hoover-Fong J, Savage WJ, Lisi E, et al. Congenital T cell deficiency in a patient with CHARGE syndrome. J Pediatr. 2009; 154: 140-142.
-
(2009)
J Pediatr
, vol.154
, pp. 140-142
-
-
Hoover-Fong, J.1
Savage, W.J.2
Lisi, E.3
-
33
-
-
77954425753
-
Successful cord blood transplantation for a charge syndrome with chd7 mutation showing digeorge sequence including hypoparathyroidism
-
Inoue H, Takada H, Kusuda T, et al. Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. Eur J Pediatr. 2010; 169: 839-844.
-
(2010)
Eur J Pediatr
, vol.169
, pp. 839-844
-
-
Inoue, H.1
Takada, H.2
Kusuda, T.3
-
34
-
-
84880941160
-
Cd4 cd31 recent thymic emigrants in chd7 haploinsufficiency (charge syndrome): A case
-
Assing K, Nielsen C, Kirchhoff M, Madsen HO, Ryder LP, Fisker N. CD4 CD31 recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): A case. Hum Immunol. 2013; 74: 1047-1050.
-
(2013)
Hum Immunol
, vol.74
, pp. 1047-1050
-
-
Assing, K.1
Nielsen, C.2
Kirchhoff, M.3
Madsen, H.O.4
Ryder, L.P.5
Fisker, N.6
-
35
-
-
0030780570
-
Severe laryngomalacia and bronchomalacia in digeorge syndrome and charge association
-
Markert ML, Majure M, Harville TO, Hulka G, Oldham K. Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association. Pediatr Pulmonol. 1997; 24: 364-369.
-
(1997)
Pediatr Pulmonol
, vol.24
, pp. 364-369
-
-
Markert, M.L.1
Majure, M.2
Harville, T.O.3
Hulka, G.4
Oldham, K.5
-
36
-
-
0031918329
-
Complete digeorge syndrome: Persistence of profound immunodeficiency
-
Markert ML, Hummell DS, Rosenblatt HM, et al. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr. 1998; 132: 15-21.
-
(1998)
J Pediatr
, vol.132
, pp. 15-21
-
-
Markert, M.L.1
Hummell, D.S.2
Rosenblatt, H.M.3
-
37
-
-
0031955591
-
Three malformation complexes related to neural crest development
-
Squires LA, Dieffenbach AZ, Betz BW. Three malformation complexes related to neural crest development. Brain Dev. 1998; 20: 183-185.
-
(1998)
Brain Dev
, vol.20
, pp. 183-185
-
-
Squires, L.A.1
Dieffenbach, A.Z.2
Betz, B.W.3
-
38
-
-
52449119835
-
Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta charge association and digeorge syndrome: A case report and literature review
-
Lee KD, Okazaki T, Kato Y, Lane GJ, Yamataka A. Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review. Pediatr Surg Int. 2008; 24: 1153-1156.
-
(2008)
Pediatr Surg Int
, vol.24
, pp. 1153-1156
-
-
Lee, K.D.1
Okazaki, T.2
Kato, Y.3
Lane, G.J.4
Yamataka, A.5
-
39
-
-
84880015665
-
More clinical overlap between 22q11.2 deletion syndrome and charge syndrome than often anticipated
-
Corsten-Janssen N, Saitta SC, Hoefsloot LH, et al. More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated. Mol Syndromol. 2012; 4: 235-245.
-
(2012)
Mol Syndromol
, vol.4
, pp. 235-245
-
-
Corsten-Janssen, N.1
Saitta, S.C.2
Hoefsloot, L.H.3
-
40
-
-
84856225980
-
Immunological aspects of 22q11.2 deletion syndrome
-
Gennery AR. Immunological aspects of 22q11.2 deletion syndrome. Cell Mol Life Sci. 2012; 69: 17-27.
-
(2012)
Cell Mol Life Sci
, vol.69
, pp. 17-27
-
-
Gennery, A.R.1
-
41
-
-
78651245300
-
Chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome
-
McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 2011; 90: 1-18.
-
(2011)
Medicine (Baltimore
, vol.90
, pp. 1-18
-
-
McDonald-Mcginn, D.M.1
Sullivan, K.E.2
-
42
-
-
33745611372
-
Humoral immune responses and cd27+ b cells in children with digeorge syndrome (22q11.2 deletion syndrome
-
Finocchi A, Di Cesare S, Romiti ML, et al. Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). Pediatr Allergy Immunol. 2006; 17: 382-388.
-
(2006)
Pediatr Allergy Immunol
, vol.17
, pp. 382-388
-
-
Finocchi, A.1
Di Cesare, S.2
Romiti, M.L.3
-
43
-
-
0036260179
-
Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome
-
Gennery AR, Barge D, O'Sullivan JJ, Flood TJ, Abinun M, Cant AJ. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child. 2002; 86: 422-425.
-
(2002)
Arch Dis Child
, vol.86
, pp. 422-425
-
-
Gennery, A.R.1
Barge, D.2
O'Sullivan, J.J.3
Flood, T.J.4
Abinun, M.5
Cant, A.J.6
-
44
-
-
84867857270
-
Immunoglobulin deficiencies: The b-lymphocyte side of digeorge syndrome
-
Patel K, Akhter J, Kobrynski L, et al. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome. J Pediatr. 2012; 161: 950-953.
-
(2012)
J Pediatr
, vol.161
, pp. 950-953
-
-
Patel, K.1
Akhter, J.2
Kobrynski, L.3
-
46
-
-
0035196580
-
Immunologic features of chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome
-
Jawad AF, McDonald-Mcginn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001; 139: 715-723.
-
(2001)
J Pediatr
, vol.139
, pp. 715-723
-
-
Jawad, A.F.1
McDonald-Mcginn, D.M.2
Zackai, E.3
Sullivan, K.E.4
-
49
-
-
84869508434
-
The cd46-jagged1 interaction is critical for human th1 immunity
-
Le Friec G, Sheppard D, Whiteman P, et al. The CD46-Jagged1 interaction is critical for human TH1 immunity. Nat Immunol. 2012; 13: 1213-1221.
-
(2012)
Nat Immunol
, vol.13
, pp. 1213-1221
-
-
Le Friec, G.1
Sheppard, D.2
Whiteman, P.3
-
50
-
-
0025415543
-
Involvement of the thymus and cellular immune system in craniofacial malformation syndromes
-
Scheuerle AE, Good RA, Habal MB. Involvement of the thymus and cellular immune system in craniofacial malformation syndromes. J Craniofac Surg. 1990; 1: 88-90.
-
(1990)
J Craniofac Surg
, vol.1
, pp. 88-90
-
-
Scheuerle, A.E.1
Good, R.A.2
Habal, M.B.3
-
51
-
-
0023696864
-
Kabuki make-up (niikawa-kuroki) syndrome: A study of 62 patients
-
Niikawa N, Kuroki Y, Kajii T, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet. 1988; 31: 565-589.
-
(1988)
Am J Med Genet
, vol.31
, pp. 565-589
-
-
Niikawa, N.1
Kuroki, Y.2
Kajii, T.3
-
52
-
-
84904738535
-
Charge and kabuki syndromes: A phenotypic and molecular link
-
Schulz Y, Freese L, Manz J, et al. CHARGE and Kabuki syndromes: A phenotypic and molecular link. Hum Mol Genet. 2014; 23: 4396-4405.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 4396-4405
-
-
Schulz, Y.1
Freese, L.2
Manz, J.3
-
53
-
-
19944420858
-
Immune abnormalities are a frequent manifestation of kabuki syndrome
-
Hoffman JD, Ciprero KL, Sullivan KE, et al. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A. 2005; 135: 278-281.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 278-281
-
-
Hoffman, J.D.1
Ciprero, K.L.2
Sullivan, K.E.3
-
54
-
-
0031979459
-
Kabuki (niikawa-kuroki) syndrome associated with immunodeficiency
-
Chrzanowska KH, Krajewska-Walasek M, Kus J, et al. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency. Clin Genet. 1998; 53: 308-312.
-
(1998)
Clin Genet
, vol.53
, pp. 308-312
-
-
Chrzanowska, K.H.1
Krajewska-Walasek, M.2
Kus, J.3
-
56
-
-
70449360736
-
Great vessel development requires biallelic expression of chd7 and tbx1 in pharyngeal ectoderm in mice
-
Randall V, McCue K, Roberts C, et al. Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest. 2009; 119: 3301-3310.
-
(2009)
J Clin Invest
, vol.119
, pp. 3301-3310
-
-
Randall, V.1
McCue, K.2
Roberts, C.3
-
57
-
-
77956607420
-
The atp-dependent chromatin remodeling enzyme chd7 regulates pro-neural gene expression and neurogenesis in the inner ear
-
Hurd EA, Poucher HK, Cheng K, Raphael Y, Martin DM. The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear. Development. 2010; 137: 3139-3150.
-
(2010)
Development
, vol.137
, pp. 3139-3150
-
-
Hurd, E.A.1
Poucher, H.K.2
Cheng, K.3
Raphael, Y.4
Martin, D.M.5
-
58
-
-
77951203831
-
Hes1 expression is reduced in tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome
-
van Bueren KL, Papangeli I, Rochais F, et al. Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. Dev Biol. 2010; 340: 369-380.
-
(2010)
Dev Biol
, vol.340
, pp. 369-380
-
-
Van Bueren, K.L.1
Papangeli, I.2
Rochais, F.3
-
59
-
-
33846030508
-
Embryonic expression profile of chicken chd7, the ortholog of the causative gene for charge syndrome
-
Aramaki M, Kimura T, Udaka T, et al. Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome. Birth Defects Res A Clin Mol Teratol. 2007; 79: 50-57.
-
(2007)
Birth Defects Res A Clin Mol Teratol
, vol.79
, pp. 50-57
-
-
Aramaki, M.1
Kimura, T.2
Udaka, T.3
-
60
-
-
33645128921
-
Phenotypic spectrum of charge syndrome in fetuses with chd7 truncating mutations correlates with expression during human development
-
Sanlaville D, Etchevers HC, Gonzales M, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet. 2006; 43: 211-217.
-
(2006)
J Med Genet
, vol.43
, pp. 211-217
-
-
Sanlaville, D.1
Etchevers, H.C.2
Gonzales, M.3
-
61
-
-
67651071559
-
Early defects in human t-cell development severely affect distribution and maturation of thymic stromal cells: Possible implications for the pathophysiology of omenn syndrome
-
Poliani PL, Facchetti F, Ravanini M, et al. Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome. Blood. 2009; 114: 105-108.
-
(2009)
Blood
, vol.114
, pp. 105-108
-
-
Poliani, P.L.1
Facchetti, F.2
Ravanini, M.3
-
62
-
-
33845894709
-
Notch signalling during peripheral t-cell activation and differentiation
-
Osborne BA, Minter LM. Notch signalling during peripheral T-cell activation and differentiation. Nat Rev Immunol. 2007; 7: 64-75.
-
(2007)
Nat Rev Immunol
, vol.7
, pp. 64-75
-
-
Osborne, B.A.1
Minter, L.M.2
-
63
-
-
84895509804
-
Non-canonical notch signaling drives activation and differentiation of peripheral cd4(+) t cells
-
Dongre A, Surampudi L, Lawlor RG, et al. Non-canonical Notch signaling drives activation and differentiation of peripheral CD4(+) T cells. Front Immunol. 2014; 5: 54.
-
(2014)
Front Immunol
, vol.5
, pp. 54
-
-
Dongre, A.1
Surampudi, L.2
Lawlor, R.G.3
-
64
-
-
43549125744
-
A network analysis of the human t-cell activation gene network identifies jagged1 as a therapeutic target for autoimmune diseases
-
Palacios R, Goni J, Martinez-Forero I, et al. A network analysis of the human T-cell activation gene network identifies JAGGED1 as a therapeutic target for autoimmune diseases. PLoS One. 2007; 2: e1222.
-
(2007)
PLoS One
, vol.2
, pp. e1222
-
-
Palacios, R.1
Goni, J.2
Martinez-Forero, I.3
-
65
-
-
84899977730
-
Mouse sertoli cells sustain de novo generation of regulatory T cells by triggering the notch pathway through soluble JAGGED1
-
Campese AF, Grazioli P, de Cesaris P, et al. Mouse sertoli cells sustain de novo generation of regulatory T cells by triggering the notch pathway through soluble JAGGED1. Biol Reprod. 2014; 90: 53.
-
(2014)
Biol Reprod
, vol.90
, pp. 53
-
-
Campese, A.F.1
Grazioli, P.2
De Cesaris, P.3
-
66
-
-
79957600785
-
Sox2 cooperates with chd7 to regulate genes that are mutated in human syndromes
-
Engelen E, Akinci U, Bryne JC, et al. Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. Nat Genet. 2011; 43: 607-611.
-
(2011)
Nat Genet
, vol.43
, pp. 607-611
-
-
Engelen, E.1
Akinci, U.2
Bryne, J.C.3
-
67
-
-
77956123023
-
Supernumerary impacted teeth in a patient with sox2 anophthalmia syndrome
-
Numakura C, Kitanaka S, Kato M, et al. Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome. Am J Med Genet A. 2010; 152A: 2355-2359.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2355-2359
-
-
Numakura, C.1
Kitanaka, S.2
Kato, M.3
-
68
-
-
58149186461
-
Chd7 mutations in patients initially diagnosed with kallmann syndrome-The clinical overlap with charge syndrome
-
Jongmans MC, Ravenswaaij-Arts CM, Pitteloud N, et al. CHD7 mutations in patients initially diagnosed with Kallmann syndrome-The clinical overlap with CHARGE syndrome. Clin Genet. 2009; 75: 65-71.
-
(2009)
Clin Genet
, vol.75
, pp. 65-71
-
-
Jongmans, M.C.1
Ravenswaaij-Arts, C.M.2
Pitteloud, N.3
-
69
-
-
79960802234
-
Reproductive dysfunction and decreased gnrh neurogenesis in a mouse model of charge syndrome
-
Layman WS, Hurd EA, Martin DM. Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome. Hum Mol Genet. 2011; 20: 3138-3150.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3138-3150
-
-
Layman, W.S.1
Hurd, E.A.2
Martin, D.M.3
-
70
-
-
84891517916
-
Deregulated fgf and homeotic gene expression underlies cerebellar vermis hypoplasia in charge syndrome
-
Yu T, Meiners LC, Danielsen K, et al. Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome. Elife. 2013; 2: e01305.
-
(2013)
Elife
, vol.2
, pp. e01305
-
-
Yu, T.1
Meiners, L.C.2
Danielsen, K.3
-
71
-
-
1642546957
-
Fibroblast growth factor receptor-1 interacts with the t-cell receptor signalling pathway
-
Byrd VM, Kilkenny DM, Dikov MM, et al. Fibroblast growth factor receptor-1 interacts with the T-cell receptor signalling pathway. Immunol Cell Biol. 2003; 81: 440-450.
-
(2003)
Immunol Cell Biol
, vol.81
, pp. 440-450
-
-
Byrd, V.M.1
Kilkenny, D.M.2
Dikov, M.M.3
-
73
-
-
1642581677
-
T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome
-
Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE: T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004; 103: 1020-1025.
-
(2004)
Blood
, vol.103
, pp. 1020-1025
-
-
Piliero, L.M.1
Sanford, A.N.2
McDonald-McGinn, D.M.3
Zackai, E.H.4
Sullivan, K.E.5
-
75
-
-
45149091512
-
Chd7 mutation spectrum in 28 swedish patients diagnosed with charge syndrome
-
Wincent J, Holmberg E, Strömland K, et al. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. Clin Genet. 2008; 74: 31-38.
-
(2008)
Clin Genet
, vol.74
, pp. 31-38
-
-
Wincent, J.1
Holmberg, E.2
Strömland, K.3
|