(Q41300576)

29 September 2017

1 reference

title

Immunodeficiency as a component of recognizable syndromes (English)

1 reference

29 September 2017

Ming JE

1

1 reference

29 September 2017

Stiehm ER

series ordinal

2

1 reference

29 September 2017

Graham JM Jr

series ordinal

3

1 reference

29 September 2017

publication date

1 December 1996

1 reference

American Journal of Medical Genetics Part A

29 September 2017

published in

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29 September 2017

volume

66

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29 September 2017

issue

4

1 reference

29 September 2017

page(s)

378-398

1 reference

An inherited defect of neutrophil mobility in Shwachman syndrome

29 September 2017

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1 reference

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Shwachman's syndrome. A review of 21 cases

21 January 2018

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Dyskeratosis congenita: three additional families show linkage to a locus in Xq28.

21 January 2018

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Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae

21 January 2018

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Mulvihill-Smith syndrome: case report and review

21 January 2018

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Prediction of persistent immunodeficiency in the DiGeorge anomaly

21 January 2018

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Hypercatabolism of IgG, IgA, IgM, and albumin in the Wiskott-Aldrich syndrome. A unique disorder of serum protein metabolism

21 January 2018

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Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies

21 January 2018

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Clinical and immunological findings in four infants with Omenn's syndrome: a form of severe combined immunodeficiency with phenotypically normal T cells, elevated IgE, and eosinophilia

21 January 2018

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Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?

21 January 2018

1 reference

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Deficiency of humoral immunity and hypoparathyroidism associated with the Hallerman-Streiff syndrome

21 January 2018

1 reference

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Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

21 January 2018

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Mannosidosis: clinical, morphologic, immunologic, and biochemical studies

21 January 2018

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A defect of cellular immunity in xeroderma pigmentosum

21 January 2018

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Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity?

21 January 2018

1 reference

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Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and "specific" granule deficiency

21 January 2018

1 reference

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Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

21 January 2018

1 reference

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Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1

21 January 2018

1 reference

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Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review

21 January 2018

1 reference

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A syndrome associating partial albinism and immunodeficiency

21 January 2018

1 reference

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Chediak-Higashi gene in humans. I. Impairment of natural - killer function

21 January 2018

1 reference

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Hereditary transcobalamin II deficiency: clinical findings in a new family

21 January 2018

1 reference

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Associations of the skeletal and immune systems

21 January 2018

1 reference

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Abnormal immune responses of Bloom's syndrome lymphocytes in vitro

21 January 2018

1 reference

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Transcobalamin II deficiency: case report and review of the literature.

21 January 2018

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Rubinstein-Taybi Syndrome with thymic hypoplasia

21 January 2018

1 reference

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Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?

21 January 2018

1 reference

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Lissencephaly, abnormal lymph nodes, and T-cell deficiency in one patient

21 January 2018

1 reference

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Retinoic acid embryopathy

21 January 2018

1 reference

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Schimke immuno-osseous dysplasia: case report and review

21 January 2018

1 reference

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Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review

21 January 2018

1 reference

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Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients

21 January 2018

1 reference

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The Natural History of the Inherited Methylmalonic Acidemias

21 January 2018

1 reference

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T cell lines characterize events in the pathogenesis of the Wiskott-Aldrich syndrome

21 January 2018

1 reference

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Premature aging and immunodeficiency: Mulvihill-Smith syndrome?

21 January 2018

1 reference

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Defective monocyte oxidative metabolism in a child with Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

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Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

21 January 2018

1 reference

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Letter: Immunodeficiency and steely hair

21 January 2018

1 reference

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New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

21 January 2018

1 reference

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Impaired culture generated cytotoxicity with preservation of spontaneous natural killer-cell activity in cartilage-hair hypoplasia

21 January 2018

1 reference

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An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

21 January 2018

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Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?

21 January 2018

1 reference

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The beige mutation in the mouse selectively impairs natural killer cell function

21 January 2018

1 reference

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Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes

21 January 2018

1 reference

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Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

21 January 2018

1 reference

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Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder

21 January 2018

1 reference

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Pathologic features of the CHARGE association: support for involvement of the neural crest.

21 January 2018

1 reference

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Oxidative damage to neutrophils in glutathione synthetase deficiency

21 January 2018

1 reference

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Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961230%2966%3A4%3C378%3A%3AAID-AJMG2%3E3.0.CO%3B2-H

Wiskott-Aldrich syndrome: a multidisciplinary disease

21 January 2018

1 reference

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Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients

21 January 2018

1 reference

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Inheritable biotin-treatable disorders and associated phenomena

21 January 2018

1 reference

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Further delineation of the Nijmegen breakage syndrome

21 January 2018

1 reference

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Lysosomal elastase and cathepsin G in beige mice. Neutrophils of beige (Chediak-Higashi) mice selectively lack lysosomal elastase and cathepsin G.

21 January 2018

1 reference

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An apparently new syndrome of microcephalic primordial dwarfism and cataracts

21 January 2018

1 reference

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Dyskeratosis congenita: Hematologic evaluation of a sibship and review of the literature

21 January 2018

1 reference

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Congenital isolated folic acid malabsorption

21 January 2018

1 reference

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Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature

21 January 2018

1 reference

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Clinical and laboratory diagnosis of acrodermatitis enteropathica

21 January 2018

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Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

21 January 2018

1 reference

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Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene

21 January 2018

1 reference

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A new chromosomal instability disorder: the Nijmegen breakage syndrome

21 January 2018

1 reference

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Impaired lymphocyte transformation in intestinal lymphangiectasia: evidence for at least two functionally distinct lymphocyte populations in man

21 January 2018

1 reference

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Zinc correction of defective chemotaxis in acrodermatitis enteropathica

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961230%2966%3A4%3C378%3A%3AAID-AJMG2%3E3.0.CO%3B2-H

Imbalances in subsets of T lymphocytes in an inbred pedigree with Omenn's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961230%2966%3A4%3C378%3A%3AAID-AJMG2%3E3.0.CO%3B2-H

10.1002/(SICI)1096-8628(19961230)66:4<378::AID-AJMG2>3.0.CO;2-H

21 January 2018

Identifiers

DOI

1 reference

29 September 2017

1 reference