Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients. (Q38916623)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Ahmed Rebai

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

11

Koussay Dellagi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Chiraz Bouchlaka

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Chokri Maktouf

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Bahri Mahjoub

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Abdelkarim Ayadi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

M Tahar Sfar

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Mahbouba Sioud

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Neji Gueddich

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Zouheir Belhadjali

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

publication date

7 February 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

25 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

262-270

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17285242%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10038-007-0110-0

25 December 2019

exact match

0 references

cites work

Update on cobalamin, folate, and homocysteine

2 references

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0110-0

21 January 2018

12 December 2020

Megalin and cubilin: multifunctional endocytic receptors

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-007-0110-0

[Imerslund-Najman-Grasbeck anemia. Apropos of a case]

21 January 2018

1 reference

12 December 2020

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

12 December 2020

TESTING FOR HETEROGENEITY OF RECOMBINATION FRACTION VALUES IN HUMAN GENETICS

1 reference

12 December 2020

Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

1 reference

12 December 2020

Familial selective vitamin B12 malabsorption (Imerslund-Gräsbeck syndrome) in a pool of Turkish patients

1 reference

12 December 2020

The intrinsic factor-vitamin B12 receptor and target of teratogenic antibodies is a megalin-binding peripheral membrane protein with homology to developmental proteins

1 reference

12 December 2020

Genotypic/phenotypic heterogeneity of selective vitamin B12 malabsorption (Grasbeck-Imerslund syndrome) in two Bedouin families

1 reference

12 December 2020

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

1 reference

12 December 2020

Ileal Mucosa in Familial Selective Vitamin B12Malabsorption

1 reference

12 December 2020

A case report of 46,XX,del(21)(q22) de novo deletion associated with Imerslund-Grasbeck syndrome

1 reference

12 December 2020

Absent ileal uptake of IF-bound vitamin B12 in vivo in the Imerslund-Grasbeck syndrome (familial vitamin B12 malabsorption with proteinuria).

1 reference

12 December 2020

Idiopathic chronic megaloblastic anemia in children

1 reference

12 December 2020

Imerslund-Gräsbeck Syndrome in a Saudi Family

1 reference

12 December 2020

Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome.

1 reference

12 December 2020

Failure to thrive associated with the Imerslund-Grasbeck syndrome

1 reference

12 December 2020

Failure to thrive is an early symptom of the imerslund Gräsbeck syndrome

1 reference

12 December 2020

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia

1 reference

12 December 2020

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless

1 reference

12 December 2020

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

1 reference

12 December 2020

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

1 reference

12 December 2020

Imerslund-Gräsbeck syndrome and generalized malabsorption

1 reference

12 December 2020

Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption

1 reference

12 December 2020

Imerslund-Najman-Gräsbeck anemia. Apropos of a case

1 reference

12 December 2020

The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region

1 reference

12 December 2020

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

12 December 2020

Linkage analysis of a large inbred family with congenital megaloblastic anemia

1 reference

12 December 2020

Selective vitamin B 12 malabsorption with proteinuria in Israel: clinical and genetic aspects

1 reference

12 December 2020

Identification and characterization of two distinct ligand binding regions of cubilin

1 reference

12 December 2020

Imerslund-Gräsbeck anemia. A long-term follow-up study

1 reference

12 December 2020

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

1 reference

12 December 2020

Intrinsic factor studies II. The effect of gastric juice on the urinary excretion of radioactivity after the oral administration of radioactive vitamin B12

1 reference

12 December 2020

Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein

1 reference

12 December 2020

Familial selective vitamin B 12 malabsorption

1 reference

12 December 2020

Molecular Dissection of the Intrinsic Factor-Vitamin B12Receptor, Cubilin, Discloses Regions Important for Membrane Association and Ligand Binding

1 reference

12 December 2020

Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection

1 reference

12 December 2020

Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome.

1 reference

12 December 2020

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

1 reference

12 December 2020

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

1 reference

12 December 2020