(Q31152048)

English

De novo mutations producing unstable hemoglobins or hemoglobins M : I. Establishment of a Depository and use of data to test for an association of de novo mutation with advanced parental age.

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scholarly article

1 reference

Europe PubMed Central

29 June 2017

De novo mutations producing unstable hemoglobins or hemoglobins M : I. Establishment of a Depository and use of data to test for an association of de novo mutation with advanced parental age. (English)

1 reference

Europe PubMed Central

29 June 2017

author name string

G Stamatoyannopoulos

1

1 reference

Europe PubMed Central

29 June 2017

P E Nute

2

1 reference

Europe PubMed Central

29 June 2017

M Miller

3

1 reference

Europe PubMed Central

29 June 2017

publication date

1 October 1981

1 reference

Europe PubMed Central

29 June 2017

1 reference

Europe PubMed Central

29 June 2017

58

1 reference

Europe PubMed Central

29 June 2017

4

1 reference

Europe PubMed Central

29 June 2017

396-404

1 reference

Europe PubMed Central

29 June 2017

Structural and functional studies on hemoglobin Bethesda (alpha2beta2 145His), a varient associated with compensatory erythrocytosis

1 reference

https://api.crossref.org/works/10.1007%2FBF00282822

21 January 2018

A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FBF00282822

21 January 2018

Achondroplasia--a genetic and statistical survey

1 reference

https://api.crossref.org/works/10.1007%2FBF00282822

21 January 2018

The molecular basis of hemoglobin disease

1 reference

https://api.crossref.org/works/10.1007%2FBF00282822

21 January 2018

Parental age and mutation

1 reference

https://api.crossref.org/works/10.1007%2FBF00282822

21 January 2018

Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental age in retinoblastoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin sabine beta 91 (f 7) leu to pro. An unstable variant causing severe anemia with inclusion bodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Louisville (beta 42 (CD1) phenylalanine replaced by leucine) occurring as a fresh mutation in a Canadian woman

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary non-spherocytic haemolytic anaemia with post-splenectomy inclusion bodies and pigmenturia caused by an unstable haemoglobin Santa Ana-beta-88 (F4) leucine--proline

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[A case of methemoglobinemia M. Preliminary note]

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The unstable haemoglobin haemolytic anaemias

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental age effects on the occurrence of new mutations for the Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin M Kankakee, a new variant of hemoglobin M

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HEMOLYTIC DISEASE ASSOCIATED WITH THE PRODUCTION OF ABNORMAL HEMOGLOBIN AND INTRAERYTHROCYTIC HEINZ BODIES

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin Saint Louis β28 (B10) Leucine → Glutamine A new unstable haemoglobin only present in a ferri form

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

On the genetics of myositis ossificans progressiva

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal age effect in fibrodysplasia ossificans progressiva

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutation rate of the gene for haemophilia, and its segregation ratios in males and females

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin Southampton, 106 (G8) Leu leads to pro: an unstable variant producing severe haemolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Baylor (alpha2beta281(EF5) leu replaced by Arg)--an unstable mutant with high oxygen affinity

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new case of the unstable haemoglobin Genova (alpha 2 beta 2 28 (beta 10) leu leads to pro) in Canada: as a result of sporadic mutation and causing Heinz body haemolytic anaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Chiba: Hb Hammersmith in a Japanese girl

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spontaneous mutation in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin M Saskatoon with Slight Constant Haemolysis, Markedly Increased by Sulphonamides

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Idiopathic Heinz body anaemia: Hb-Bristol (beta67 (E11) Val to Asp)

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin istanbul: substitution of glutamine for histidine in a proximal histidine (F8(92)β)

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new approach to haemoglobin variant identification haemoglobin christchurch β71 (E15) phenylalanine å serine

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of hemoglobin M Boston. New data about valency hybrids brought by isoelectrofocusing study

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Mizuho or beta 68 (E 12) leucine leads to proline, a new unstable variant associated with severe hemolytic anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unstable haemoglobin disease caused by Hb Santa Ana- 88 (F4) Leu leads to Pro

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Savannah (B6(24) β-glycine→valine): an unstable variant causing anemia with inclusion bodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin M Hyde Park: a hereditary methaemoglobinaemia in a Caucasian child

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Casper: beta 106 (G8) Leu leads to Pro; a contemporary mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new case of hemoglobin Genova 2 2 28(B10) Leu leads to Pro. Further studies on the mechanism of instability and defective synthesis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Castilla β 32 (B14) Leu → Arg; A new unstable variant producing severe hemolytic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin Nottingham, Beta FG 5 (98) Valgly: A New Unstable Haemoglobin Producing Severe Haemolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and laboratory features of two variants of methemoglobin M disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New unstable haemoglobin (Hb Moscva, beta24 (B4) Gly leads to Asp) found in the USSR

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three families with unstable hemoglobinopathies (Köln, Olmsted and Santa Ana) causing hemolytic anemia with inclusion bodies and pigmenturia

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin Hammersmith (β 42 (CD1) Phe→Ser)

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin M-Osaka, a new variant of hemoglobin M

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Köln disease occurring as a fresh mutation: erythrocyte metabolism and survival

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin Volga, beta27, (B9) Ala leads to Asp, a new highly unstable haemoglobin with a suppressed charge

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haemoglobin I Toulouse: β66 (E 10) Lys → Glu: a New Abnormal Haemoglobin with a Mutation localized on the E 10 Porphyrin Surrounding Zone

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental age in acondroplasia and mongolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional properties of hemoglobin Saint Etienne: a variant carrying heme only on chains

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Abraham Lincoln, beta32 (B14) leucine leads to proline. An unstable variant producing severe hemolytic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/28035506

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00282822

1 reference

Europe PubMed Central

29 June 2017

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1 reference

Europe PubMed Central

29 June 2017

reason for deprecated rank

incorrect identifier value

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Springer Nature article ID

10.1007/bf00282822

0 references

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