Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

Human Genetics ◽

10.1007/s00439-017-1765-z ◽

2017 ◽

Vol 136 (4) ◽

pp. 399-408 ◽

Author(s):

Joshi Stephen ◽

◽

Thierry Vilboux ◽

Luhe Mian ◽

Chulaluck Kuptanon ◽

...

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Joubert Syndrome ◽

Hormone Deficiency

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Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

BMC Pediatrics ◽

10.1186/s12887-020-2019-0 ◽

2020 ◽

Vol 20 (1) ◽

Author(s):

Marcello Niceta ◽

Maria Lisa Dentici ◽

Andrea Ciolfi ◽

Romana Marini ◽

Sabina Barresi ◽

...

Keyword(s):

Growth Hormone ◽

Case Report ◽

Literature Review ◽

Growth Hormone Deficiency ◽

Joubert Syndrome ◽

Hormone Deficiency

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CELSR2 , encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.38005 ◽

2017 ◽

Vol 173 (3) ◽

pp. 661-666 ◽

Author(s):

Thierry Vilboux ◽

May Christine V. Malicdan ◽

Joseph C. Roney ◽

Andrew R. Cullinane ◽

Joshi Stephen ◽

...

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Cell Polarity ◽

Planar Cell Polarity ◽

Joubert Syndrome ◽

Hormone Deficiency ◽

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Abstract #817 Growth Hormone Deficiency with Empty Sella Syndrome Secondary to Untreated Primary Hypothyroidism

Endocrine Practice ◽

10.1016/s1530-891x(20)47304-5 ◽

2018 ◽

Vol 24 ◽

pp. 180-181

Author(s):

Richa Arora

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Empty Sella ◽

Primary Hypothyroidism ◽

Hormone Deficiency ◽

Empty Sella Syndrome

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Cooperating on growth hormone deficiency

PsycEXTRA Dataset ◽

10.1037/e303592003-031 ◽

2001 ◽

Author(s):

Kathryn Foxhall

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Hormone Deficiency

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A marked increase in insulin binding and insulin sensitivity in patients with isolated growth hormone deficiency was recently found by researchers at the General Clinical Research Center of the Yale University School of Medicine

PsycEXTRA Dataset ◽

10.1037/e528622009-007 ◽

1979 ◽

Keyword(s):

Growth Hormone ◽

Insulin Sensitivity ◽

Clinical Research ◽

Growth Hormone Deficiency ◽

Insulin Binding ◽

Hormone Deficiency ◽

Yale University ◽

School Of Medicine ◽

Clinical Research Center ◽

General Clinical Research Center

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Growth hormone replacement in adults with severe growth hormone deficiency is effective even if baseline IGF-1 levels are in the normal range

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-0032-1330089 ◽

2012 ◽

Vol 120 (10) ◽

Author(s):

M Faust ◽

AC Åkerblad ◽

M Buchfelder ◽

G Johannsson ◽

P Jonsson ◽

...

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Hormone Replacement ◽

Hormone Deficiency ◽

Growth Hormone Replacement ◽

Normal Range ◽

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The effect of growth hormone replacement in adult growth hormone deficiency on the diurnal and ultradian dynamics of ghrelin, leptin, soluble leptin receptor and adiponectin

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2005-863021 ◽

2005 ◽

Vol 113 (S 1) ◽

Author(s):

F Joseph ◽

G Brabant ◽

A Ahmad ◽

W Fraser ◽

J Vora

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Leptin Receptor ◽

Hormone Replacement ◽

Hormone Deficiency ◽

Growth Hormone Replacement ◽

Adult Growth Hormone Deficiency ◽

Adult Growth ◽

Soluble Leptin Receptor

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The effect of growth hormone replacement therapy on lipids, LDL- and HDL-subfractions in patients with growth hormone deficiency

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2006-933085 ◽

2006 ◽

Vol 114 (S 1) ◽

Author(s):

T Minnemann ◽

S Lescher ◽

B Schamberger ◽

M Torzewski ◽

MM Weber ◽

...

Keyword(s):

Growth Hormone ◽

Hormone Replacement Therapy ◽

Growth Hormone Deficiency ◽

Replacement Therapy ◽

Hormone Replacement ◽

Hormone Deficiency ◽

Growth Hormone Replacement ◽

Hdl Subfractions ◽

Growth Hormone Replacement Therapy

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Growth hormone deficiency of childhood onset: developmental targets and adult risk

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2006-954692 ◽

2006 ◽

Vol 114 (08) ◽

Author(s):

A Attanasio

Keyword(s):

Growth Hormone ◽

Growth Hormone Deficiency ◽

Hormone Deficiency ◽

Childhood Onset

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Protein array reveals different protein levels in subcutaneous adipose tissue of patients with growth hormone deficiency in adulthood

Diabetologie und Stoffwechsel ◽

10.1055/s-2007-984749 ◽

2007 ◽

Vol 2 (04) ◽

Author(s):

D Gasperikova ◽

J Ukropec ◽

A Penesova ◽

M Skopkova ◽

M Vlcek ◽

...

Keyword(s):

Growth Hormone ◽

Adipose Tissue ◽

Growth Hormone Deficiency ◽

Subcutaneous Adipose Tissue ◽

Protein Array ◽

Hormone Deficiency ◽

Protein Levels ◽

Subcutaneous Adipose

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