-
1
-
-
84857728047
-
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
-
Al-Herz W., et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front. Immunol. 2011, 2:54.
-
(2011)
Front. Immunol.
, vol.2
, pp. 54
-
-
Al-Herz, W.1
-
2
-
-
84857715837
-
The Wisconsin approach to newborn screening for severe combined immunodeficiency
-
Verbsky J., Thakar M., Routes J. The Wisconsin approach to newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 2012, 129(3):622-627.
-
(2012)
J. Allergy Clin. Immunol.
, vol.129
, Issue.3
, pp. 622-627
-
-
Verbsky, J.1
Thakar, M.2
Routes, J.3
-
3
-
-
84882791221
-
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2years
-
Kwan A., et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2years. J. Allergy Clin. Immunol. 2013, 132(1):140-150 e7.
-
(2013)
J. Allergy Clin. Immunol.
, vol.132
, Issue.1
, pp. 140-150 e7
-
-
Kwan, A.1
-
4
-
-
84906543118
-
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
-
Kwan A., et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 2014, 312(7):729-738.
-
(2014)
JAMA
, vol.312
, Issue.7
, pp. 729-738
-
-
Kwan, A.1
-
5
-
-
84885189606
-
The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901
-
Dvorak C.C., et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J. Clin. Immunol. 2013, 33(7):1156-1164.
-
(2013)
J. Clin. Immunol.
, vol.33
, Issue.7
, pp. 1156-1164
-
-
Dvorak, C.C.1
-
6
-
-
84904876386
-
Transplantation outcomes for severe combined immunodeficiency, 2000-2009
-
Pai S.Y., et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. New Engl. J. Med. 2014, 371(5):434-446.
-
(2014)
New Engl. J. Med.
, vol.371
, Issue.5
, pp. 434-446
-
-
Pai, S.Y.1
-
7
-
-
74749107158
-
Radiosensitive severe combined immunodeficiency disease
-
Dvorak C.C., Cowan M.J. Radiosensitive severe combined immunodeficiency disease. Immunol. Allergy Clin. N. Am. 2010, 30(1):125-142.
-
(2010)
Immunol. Allergy Clin. N. Am.
, vol.30
, Issue.1
, pp. 125-142
-
-
Dvorak, C.C.1
Cowan, M.J.2
-
8
-
-
0141518299
-
Human and animal models of V(D)J recombination deficiency
-
de Villartay J.P., et al. Human and animal models of V(D)J recombination deficiency. Curr. Opin. Immunol. 2003, 15(5):592-598.
-
(2003)
Curr. Opin. Immunol.
, vol.15
, Issue.5
, pp. 592-598
-
-
de Villartay, J.P.1
-
9
-
-
0018909586
-
Gene enrichment in an American Indian population: an excess of severe combined immunodeficiency disease
-
Murphy S., et al. Gene enrichment in an American Indian population: an excess of severe combined immunodeficiency disease. Lancet 1980, 2(8193):502-505.
-
(1980)
Lancet
, vol.2
, Issue.8193
, pp. 502-505
-
-
Murphy, S.1
-
10
-
-
0037097787
-
A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans
-
Li L., et al. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J. Immunol. 2002, 168(12):6323-6329.
-
(2002)
J. Immunol.
, vol.168
, Issue.12
, pp. 6323-6329
-
-
Li, L.1
-
11
-
-
84925429902
-
The Navajo long walk
-
Rio Nuevo Publishers, Tucson
-
Cheek L.W. The Navajo long walk. Look West Series 2004, 64. Rio Nuevo Publishers, Tucson.
-
(2004)
Look West Series
, pp. 64
-
-
Cheek, L.W.1
-
12
-
-
0026245630
-
Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics
-
Jones J.F., et al. Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics. Hum. Biol. 1991, 63(5):669-682.
-
(1991)
Hum. Biol.
, vol.63
, Issue.5
, pp. 669-682
-
-
Jones, J.F.1
-
13
-
-
0036735108
-
Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease
-
Li L., et al. Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease. Prenat. Diagn. 2002, 22(9):763-768.
-
(2002)
Prenat. Diagn.
, vol.22
, Issue.9
, pp. 763-768
-
-
Li, L.1
-
14
-
-
0034720664
-
Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution
-
Douek D.C., et al. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet 2000, 355(9218):1875-1881.
-
(2000)
Lancet
, vol.355
, Issue.9218
, pp. 1875-1881
-
-
Douek, D.C.1
-
15
-
-
13444301418
-
Development of population-based newborn screening for severe combined immunodeficiency
-
Chan K., Puck J.M. Development of population-based newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 2005, 115(2):391-398.
-
(2005)
J. Allergy Clin. Immunol.
, vol.115
, Issue.2
, pp. 391-398
-
-
Chan, K.1
Puck, J.M.2
-
16
-
-
0031052589
-
Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred
-
O'Marcaigh A.S., et al. Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred. J. Clin. Immunol. 1997, 17(1):29-33.
-
(1997)
J. Clin. Immunol.
, vol.17
, Issue.1
, pp. 29-33
-
-
O'Marcaigh, A.S.1
-
17
-
-
84921434524
-
-
Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Last accessed August 12, 2014
-
Howell R.R. Report on Newborn Screening for Severe Combined Immunodeficiency 2011 2011, Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, (Available from: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendations/correspondence/severeimmunodeficiency.pdf. Last accessed August 12, 2014).
-
(2011)
Report on Newborn Screening for Severe Combined Immunodeficiency 2011
-
-
Howell, R.R.1
-
19
-
-
0032782695
-
Oral and genital ulceration: a unique presentation of immunodeficiency in Athabascan-speaking American Indian children with severe combined immunodeficiency
-
Kwong P.C., et al. Oral and genital ulceration: a unique presentation of immunodeficiency in Athabascan-speaking American Indian children with severe combined immunodeficiency. Arch. Dermatol. 1999, 135(8):927-931.
-
(1999)
Arch. Dermatol.
, vol.135
, Issue.8
, pp. 927-931
-
-
Kwong, P.C.1
-
20
-
-
39749171742
-
Waiving informed consent in newborn screening research: balancing social value and respect
-
Tarini B.A., et al. Waiving informed consent in newborn screening research: balancing social value and respect. Am. J. Med. Genet. C: Semin. Med. Genet. 2008, 148C(1):23-30.
-
(2008)
Am. J. Med. Genet. C: Semin. Med. Genet.
, vol.148 C
, Issue.1
, pp. 23-30
-
-
Tarini, B.A.1
-
21
-
-
84893316060
-
Parental permission for pilot newborn screening research: guidelines from the NBSTRN
-
Botkin J.R., et al. Parental permission for pilot newborn screening research: guidelines from the NBSTRN. Pediatrics 2014, 133(2):e410-e417.
-
(2014)
Pediatrics
, vol.133
, Issue.2
, pp. e410-e417
-
-
Botkin, J.R.1
-
22
-
-
39749102011
-
Questioning the need for informed consent: A case study of California's experience with a pilot newborn screening research project
-
Feuchtbaum L., Cunningham G., Sciortino S. Questioning the need for informed consent: A case study of California's experience with a pilot newborn screening research project. J. Empir. Res. Hum. Res. Ethics 2007, 2(3):3-14.
-
(2007)
J. Empir. Res. Hum. Res. Ethics
, vol.2
, Issue.3
, pp. 3-14
-
-
Feuchtbaum, L.1
Cunningham, G.2
Sciortino, S.3
-
23
-
-
77956397201
-
Severe combined immunodeficiency (SCID) and rotavirus vaccination: reports to the Vaccine Adverse Events Reporting System (VAERS)
-
Bakare N., et al. Severe combined immunodeficiency (SCID) and rotavirus vaccination: reports to the Vaccine Adverse Events Reporting System (VAERS). Vaccine 2010, 28(40):6609-6612.
-
(2010)
Vaccine
, vol.28
, Issue.40
, pp. 6609-6612
-
-
Bakare, N.1
|