(Q34032581)

30 July 2017

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title

Congenital bone marrow failure syndromes associated with protean developmental defects and leukemia (English)

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congenital bone marrow failure syndromes

30 July 2017

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Slayton WB

1

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30 July 2017

Schibler KR

series ordinal

2

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30 July 2017

language of work or name

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1 September 2000

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30 July 2017

published in

Clinics in Perinatology

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30 July 2017

volume

27

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30 July 2017

issue

3

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30 July 2017

page(s)

543-558

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Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome

30 July 2017

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7 January 2021

Arm anomalies and bone marrow failure may go hand in hand

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7 January 2021

Arms and the man or hands and the child: congenital anomalies and hematologic syndromes

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7 January 2021

Dominantly transmitted hematologic dysfunction clinically similar to fanconi's anemia

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7 January 2021

Clonal hematologic disorders in Down syndrome. A review.

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7 January 2021

The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9

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7 January 2021

Complementation groups: one or more per gene?

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Erythrogenesis imperfecta

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7 January 2021

IVIC syndrome: report of a third family

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Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia

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7 January 2021

Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation

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7 January 2021

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

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7 January 2021

TRANSIENT CONGENITAL LEUKEMIA IN 7 INFANTS WITH MONGOLISM.

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7 January 2021

Fatal aplastic anemia in a child with Down's syndrome

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7 January 2021

Thrombocytopenia with absent radii. A review of 100 cases.

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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

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7 January 2021

Evidence for at least eight Fanconi anemia genes

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7 January 2021

Cryptic deletions and inversions of chromosome 21 in a phenotypically normal infant with transient abnormal myelopoiesis: a molecular cytogenetic study

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7 January 2021

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis

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7 January 2021

Developmental expression of the Fac gene correlates with congenital defects in Fanconi anemia patients.

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7 January 2021

The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex

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7 January 2021

Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

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7 January 2021

Functional activity of the fanconi anemia protein FAA requires FAC binding and nuclear localization

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7 January 2021

Binding site-dependent direct activation and repression of in vitro transcription by Drosophila homeodomain proteins

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7 January 2021

Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies

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7 January 2021

Monozygotic twin girls with congenital malformations resembling fanconi anemia

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7 January 2021

Trisomy 21 associated transient neonatal myeloproliferation in the absence of Down's syndrome

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7 January 2021

Down syndrome and chromosome 21 abnormalities in leukaemia

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7 January 2021

Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome

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7 January 2021

Hox genes, arms and the man.

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7 January 2021

Transient neonatal leukemoid reactions in mosaic trisomy 21

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7 January 2021

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

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7 January 2021

Haematological abnormalities in Shwachman-Diamond syndrome

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7 January 2021

Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9

1 reference

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7 January 2021

HUMAN FOETAL HAEMATOPOIESIS. II. HEPATIC HAEMATOPOIESIS IN THE HUMAN FOETUS

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7 January 2021

Diamond-Blackfan anemia and malignancy. A case report and a review of the literature

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7 January 2021

A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA

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7 January 2021

Aplastic anemia in Dubowitz syndrome

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7 January 2021

Acute megakaryocytic leukemia (M7) in children

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7 January 2021

The Fanconi anemia polypeptide FACC is localized to the cytoplasm

1 reference

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7 January 2021

Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells

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7 January 2021

Leukemia in Down syndrome: a review

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7 January 2021

Transient myeloproliferative disorder associated with trisomy 21, a wide range syndrome: report of two cases with trisomy 21 mosaicism

1 reference

https://api.crossref.org/works/10.1016%2FS0095-5108%2805%2970038-5

7 January 2021

10.1016/S0095-5108(05)70038-5

Identifiers

DOI

1 reference

30 July 2017

1 reference