Inherited macrocephaly-hamartoma syndromes (Q48766603)

15 February 2018

review article

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title

Inherited macrocephaly-hamartoma syndromes (English)

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15 February 2018

author name string

DiLiberti JH

series ordinal

1

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15 February 2018

publication date

1 October 1998

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15 February 2018

American Journal of Medical Genetics Part A

published in

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15 February 2018

volume

79

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15 February 2018

issue

4

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15 February 2018

page(s)

284-290

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15 February 2018

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.

21 January 2018

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Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome

21 January 2018

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Bannayan-Riley-Ruvalcaba syndrome: renaming three formerly recognized syndromes as one etiologic entity

21 January 2018

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Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes

21 January 2018

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Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

21 January 2018

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Male to male transmission of cerebral gigantism

21 January 2018

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Pseudopapilledema and macrocephaly in a child

21 January 2018

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Intra- and interexaminer reliability of anthropometric measurements of term infants.

21 January 2018

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PTEN1 is frequently mutated in primary endometrial carcinomas

21 January 2018

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PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer

21 January 2018

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Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

21 January 2018

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Cowden's disease. A possible new symptom complex with multiple system involvement

21 January 2018

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Germline mutations in PTEN are present in Bannayan-Zonana syndrome

21 January 2018

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Macrocephaly with hamartomas: Bannayan-Zonana syndrome

21 January 2018

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Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

21 January 2018

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Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome

21 January 2018

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Cowden's disease: analysis of fourteen new cases

21 January 2018

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Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers

21 January 2018

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Macrocephaly in association with unusual cutaneous angiomatosis

21 January 2018

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Familial variation of head size and adjustment for parental head circumference

21 January 2018

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Macrocephaly with multiple lipomas and hemangiomas

21 January 2018

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Localization of the gene for Cowden disease to chromosome 10q22–23

21 January 2018

1 reference

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Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

21 January 2018

1 reference

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Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations

21 January 2018

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A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome

21 January 2018

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Bannayan-Riley-Ruvalcaba syndrome

21 January 2018

1 reference

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Lhermitte-duclos disease and cowden disease: A single phakomatosis

21 January 2018

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Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.

21 January 2018

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The Cowden syndrome: a clinical and genetic study in 21 patients

21 January 2018

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Multiple Hamartoma Syndrome (Cowden's Disease)

21 January 2018

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10.1002/(SICI)1096-8628(19981002)79:4<284::AID-AJMG10>3.0.CO;2-N

21 January 2018

Identifiers

DOI

1 reference

15 February 2018

1 reference

15 February 2018