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Roifman syndrome
Known as:
RFMN
, SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY
, Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency
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National Institutes of Health
Topic mentions per year
Topic mentions per year
2000-2018
0
1
2
2000
2018
Related topics
Related topics
17 relations
Autosomal recessive inheritance
Brachydactyly
Clinodactyly of the 5th finger
Eczema
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Broader (5)
Cardiomyopathies
Immunologic Deficiency Syndromes
Mental Retardation, X-Linked
Osteochondrodysplasias
(More)
Related mentions per year
Related mentions per year
1936-2018
1940
1960
1980
2000
2020
Roifman syndrome
Cardiomyopathies
Retinal Diseases
Immunologic Deficiency Syndromes
Autosomal recessive inheritance
Lymphadenopathy
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.
Jessica Heremans
,
Josselyn E Garcia-Perez
,
+18 authors
Adrian Liston
The Journal of allergy and clinical immunology
2018
BACKGROUND Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation…Â
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2018
2018
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
Laura S Farach
,
Mary E. Little
,
+4 authors
Michael Bober
American journal of medical genetics. Part A
2018
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and…Â
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2017
2017
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
Delfien J. A. Bogaert
,
Melissa Dullaers
,
+11 authors
Filomeen Haerynck
Scientific Reports
2017
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More…Â
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2017
2017
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
Yael Dinur Schejter
,
Adi Ovadia
,
+6 authors
Chaim M. Roifman
npj Genomic Medicine
2017
Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and…Â
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Review
2016
Review
2016
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Audrey Putoux
,
Abdullah Alqahtani
,
+24 authors
Patrick Edery
Clinical genetics
2016
Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic…Â
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2011
2011
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.
Paul E A Gray
,
Daniel John Sillence
,
Alyson M Kakakios
International journal of immunogenetics
2011
Roifman syndrome is a rare syndrome of bone dysplasia, growth retardation, retinal dystrophy and humeral immunodeficiency. Six…Â
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2011
2011
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome.
Helen R Fairchild
,
Graeme Fairchild
,
Kevin M Tierney
,
Deborah L McCartney
,
Justin J. Cross
,
Petrus J. de Vries
American journal of medical genetics. Part A
2011
In 2006, we reported the cognitive and behavioral phenotype of the seventh case of Roifman syndrome (OMIM 300258). Aged 11 years…Â
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2006
2006
The cognitive and behavioural phenotype of Roifman syndrome.
Petrus J. de Vries
,
D. Mccartney
,
Elaina McCartney
,
David N. Woolf
,
D Wozencroft
Journal of intellectual disability research…
2006
BACKGROUND Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell…Â
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2001
2001
Noncompaction of the myocardium associated with Roifman syndrome.
K. Mandel
,
Eyal Grunebaum
,
Lee Benson
Cardiology in the young
2001
Noncompaction of the ventricular myocardium, sometimes referred to as "spongy myocardium", appears as excessive and prominent…Â
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2000
2000
Hypogonadotrophic hypogonadism in Roifman syndrome.
Sarah Robertson
,
Christina Rodda
,
Alexander A. Bankier
Clinical genetics
2000
The combination of spondyloepiphyseal dysplasia, humoral immune deficiency, growth retardation, intellectual deficit and…Â
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