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Inherited macrocephaly-hamartoma syndromes
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9781909
retrieved
15 February 2018
reference URL
http://europepmc.org/abstract/MED/9781909
review article
1 reference
stated in
Europe PubMed Central
title
Inherited macrocephaly-hamartoma syndromes
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9781909
retrieved
15 February 2018
reference URL
http://europepmc.org/abstract/MED/9781909
author name string
DiLiberti JH
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9781909
retrieved
15 February 2018
reference URL
http://europepmc.org/abstract/MED/9781909
publication date
1 October 1998
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9781909
retrieved
15 February 2018
reference URL
http://europepmc.org/abstract/MED/9781909
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9781909
retrieved
15 February 2018
reference URL
http://europepmc.org/abstract/MED/9781909
volume
79
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9781909
retrieved
15 February 2018
reference URL
http://europepmc.org/abstract/MED/9781909
issue
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9781909
retrieved
15 February 2018
reference URL
http://europepmc.org/abstract/MED/9781909
page(s)
284-290
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9781909
retrieved
15 February 2018
reference URL
http://europepmc.org/abstract/MED/9781909
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Incorporating sonographic cheek-to-cheek diameter, biparietal diameter and abdominal circumference improves weight estimation in the macrosomic fetus
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Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I.
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Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome
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Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes
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Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?
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Male to male transmission of cerebral gigantism
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Pseudopapilledema and macrocephaly in a child
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Intra- and interexaminer reliability of anthropometric measurements of term infants.
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PTEN1 is frequently mutated in primary endometrial carcinomas
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PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer
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Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
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Cowden's disease. A possible new symptom complex with multiple system involvement
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Germline mutations in PTEN are present in Bannayan-Zonana syndrome
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Macrocephaly with hamartomas: Bannayan-Zonana syndrome
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Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
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Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome
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Cowden's disease: analysis of fourteen new cases
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Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers
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Macrocephaly in association with unusual cutaneous angiomatosis
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Macrocephaly with multiple lipomas and hemangiomas
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Localization of the gene for Cowden disease to chromosome 10q22–23
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Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease
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Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations
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A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome
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21 January 2018
Bannayan-Riley-Ruvalcaba syndrome
1 reference
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reference URL
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retrieved
21 January 2018
Lhermitte-duclos disease and cowden disease: A single phakomatosis
1 reference
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21 January 2018
Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.
1 reference
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reference URL
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retrieved
21 January 2018
The Cowden syndrome: a clinical and genetic study in 21 patients
1 reference
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reference URL
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retrieved
21 January 2018
Multiple Hamartoma Syndrome (Cowden's Disease)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981002%2979%3A4%3C284%3A%3AAID-AJMG10%3E3.0.CO%3B2-N
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19981002)79:4<284::AID-AJMG10>3.0.CO;2-N
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9781909
retrieved
15 February 2018
reference URL
http://europepmc.org/abstract/MED/9781909
PubMed publication ID
9781909
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9781909
retrieved
15 February 2018
reference URL
http://europepmc.org/abstract/MED/9781909
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