Publications: Dr Sasha Howard
Dunkel L, Saengkaew T, Howard SR
(
2024
)
.
Disorders of Puberty and Their Management
.
Paediatric Endocrinology
,
Springer Nature
Read JE, Vasile‐Tudorache A, Newsome A, Lorente MJ, Agustín‐Pavón C, Howard SR
(
2024
)
.
Disorders of puberty and neurodevelopment: A shared etiology?
.
Annals of the New York Academy of Sciences
vol.
1541
,
(
1
)
83
-
99
.
d'Aniello F, Mariniello K, Al Sayed Y, Bhavsar K, Read JE, Guasti L, Howard SR
(
2024
)
.
The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation
.
Hormone Research in Paediatrics1
-
11
.
He W, Schafer EC, Brauner R, Delaney A, Dunkel L, Grinspon R, Hall JE, Hirschhorn JN et al.
(
2024
)
.
12330 Rare Variants in SEMA3A in Individuals with Constitutional Delay of Puberty (CDP)
.
Journal of the Endocrine Society
vol.
8
,
(
Supplement_1
)
He W, Schafer EC, Brauner R, Delaney A, Dunkel L, Grinspon R, Hall JE, Hirschhorn JN et al.
(
2024
)
.
6846 Rare Variants in SEMA3A in Individuals with Constitutional Delay of Puberty (CDP)
.
Journal of the Endocrine Society
vol.
8
,
(
Supplement_1
)
Aslam AA, Lim S, Willemsen R, Koysombat K, Young M, Dhillo WS, Abbara A, Howard S et al.
(
2024
)
.
7640 The first description of an MC4R variant in a patient with Kallmann syndrome and obesity
.
Journal of the Endocrine Society
vol.
8
,
(
Supplement_1
)
A AA, Lim S, Willemsen RH, Koysombat K, Young M, Dhillo WS, Abbara A, Howard SR et al.
(
2024
)
.
First description of kisspeptin unresponsive hypogonadotrophic hypogonadism, anosmia with olfactory hypoplasia (kallmann syndrome) and obesity due to an MC4R variant
.
Endocrine Abstracts
Castro S, Brungs R, Gevers E, Howard SR
(
2024
)
.
Minipuberty: a golden phase for optimal treatment. recombinant gonadotropin therapy during minipuberty in males with hypogonadotropic hypogonadism: a case series
.
Endocrine Abstracts
De Silva N, Howard SR, O'Sullivan J, Russell J, Lee A, Duffy L, Cheetham T, Mamoojee Y et al.
(
2024
)
.
Gonadotropin treatment of cryptorchidism in congenital hypogonadotropic hypogonadism—Age is no limit?
.
Clinical Endocrinology
vol.
101
,
(
3
)
282
-
285
.
Rhys‐Evans S, Howard SR
(
2024
)
.
Combined gonadotropin therapy to replace mini‐puberty in male infants with congenital hypogonadotropic hypogonadism
.
Annals of the New York Academy of Sciences
vol.
1537
,
(
1
)
32
-
40
.
Tsoutsouki J, Comninos AN, Phylactou M, Young M, Mills E, Maria NA, Wynn NS, Koysombat K et al.
(
2024
)
.
Making scents of hemi-anosmia in a woman presenting with secondary amenorrhoea
.
Endocrine Abstracts
Tsoutsouki J, N CA, Phylactou M, Patel B, Mills E, Young M, Yeung A, Koysombat K et al.
(
2024
)
.
Endocrine responses to kisspeptin in an unusual case of kallmann syndrome with unilateral anosmia
.
Endocrine Abstracts
Lippincott MF, Schafer EC, Hindman AA, He W, Brauner R, Delaney A, Grinspon R, Hall JE et al.
(
2024
)
.
Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism
.
The Journal of Clinical Endocrinology & Metabolism
Rohayem J, Alexander EC, Heger S, Nordenström A, Howard SR
(
2024
)
.
Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement
.
Endocrine Reviews
vol.
45
,
(
4
)
460
-
492
.
Howard SR
(
2024
)
.
Delayed puberty and hypogonadism; Female
.
Reference Module in Biomedical Sciences
,
Elsevier
Alexander EC, Faruqi D, Farquhar R, Unadkat A, Yin KN, Hoskyns R, Varughese R, Howard SR
(
2023
)
.
Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis
.
European Journal of Endocrinology
vol.
190
,
(
1
)
s1
-
s11
.
Hoskyns RB, Howard SR
(
2023
)
.
Effects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review
.
Journal of Pediatric Endocrinology and Metabolism
vol.
37
,
(
2
)
102
-
109
.
Lettieri A, Oleari R, van den Munkhof MH, van Battum EY, Verhagen MG, Tacconi C, Spreafico M, Paganoni AJJ et al.
(
2023
)
.
SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability
.
Nature Communications
vol.
14
,
(
1
)
Howard SR, Quinton R
(
2023
)
.
Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty
.
Journal of Pediatric Endocrinology and Metabolism
vol.
37
,
(
1
)
1
-
7
.
d'Aniello F, Aung Y, Kokotsis V, Howard SR
(
2023
)
.
Can clinical, biochemical and genetic parameters help distinguish congenital hypogonadotrophic hypogonadism from self-limited delayed puberty?
.
Endocrine Abstracts
Read J, Guasti L, Paganoni A, Howard S
(
2023
)
.
Rare variants in the MECP2 gene in girls with central precocious puberty
.
Endocrine Abstracts
Alexander E, Yin KN, Faruqi D, Farquhar R, Unadkat A, Varughese R, Howard S
(
2023
)
.
Systematic review and meta-analysis of spermatogenesis rates after pubertal induction with gonadotropins in males with hypogonadotropic hypogonadism
.
Endocrine Abstracts
Aung Y, Kokotsis V, Yin KN, Banerjee K, Butler G, Dattani MT, Dimitri P, Dunkel L et al.
(
2023
)
.
Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism
.
Frontiers in Endocrinology
vol.
14
,
Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG et al.
(
2023
)
.
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study
.
The Lancet Diabetes & Endocrinology
vol.
11
,
(
8
)
545
-
554
.
Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ et al.
(
2023
)
.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
.
The Journal of Clinical Endocrinology & Metabolism
vol.
108
,
(
12
)
e1580
-
e1587
.
Mistry JN, Silvennoinen S, Zaman F, Sävendahl L, Mariniello K, Hall C, Howard SR, Dunkel L et al.
(
2023
)
.
The crosstalk between FGF21 and GH leads to weakened GH receptor signaling and IGF1 expression and is associated with growth failure in very preterm infants
.
Frontiers in Endocrinology
vol.
14
,
Alexander E, Faruqi D, Farquhar R, Unadkat A, Ng YK, Kokotsis V, Howard S
(
2023
)
.
A systematic review of gonadotropin and GnRH therapy for the induction or completion of puberty in males with hypogonadotropic hypogonadism
.
Endocrine Abstracts
Sanpawithayakul K, Howard S, Korbonits M
(
2023
)
.
Kisspeptin Kindred: Case Report and Literature Review
.
Endocrine Abstracts
Aung Y, Kokotsis V, Howard S
(
2023
)
.
Phenotypic and genotypic variation in pubertal presentation among patients with self-limited delayed puberty and hypogonadotrophic hypogonadism
.
Endocrine Abstracts
Dunkel L, Saengkaew T, Howard SR
(
2023
)
.
Disorders of Puberty and Their Management
.
Paediatric Endocrinology
,
Springer Nature
Oleari R, Lettieri A, Manzini S, Paganoni A, André V, Grazioli P, Busnelli M, Duminuco P et al.
(
2023
)
.
Combined omic analyses reveal autism-linked NLGN3 gene as a key developmental regulator of GnRH neuron biology and disease
.
Disease Models & Mechanisms
vol.
16
,
(
3
)
Howard SR, Fanis P, Nicolaides NC, Grandone A
(
2023
)
.
Editorial: Genetic, epigenetic and molecular landscaping of puberty
.
Frontiers in Endocrinology
vol.
14
,
Rezende R, Schafer E, Kaisinger L, Dantas N, Andrade N, Cellin L, Quedas E, He W et al.
(
2023
)
.
Several new candidate genes for self-limited delayed puberty revealed by whole exome sequencing
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
96
,
52
-
52
.
Al Sayed Y, Howard SR
(
2022
)
.
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
.
European Journal of Human Genetics
vol.
31
,
(
4
)
387
-
394
.
Canton A, Tinano F, Guasti L, Montenegro L, Argente J, Ryan F, Shears D, Melo ME et al.
(
2022
)
.
RF14 | PSAT120 X-Linked Central Precocious Puberty Associated with MECP2 Defects
.
Journal of the Endocrine Society
vol.
6
,
(
Supplement_1
)
a643
-
a644
.
E RJ, Pinheiro-Machado CA, Tinano F, Guasti L, Ribeiro ML, Ryan F, Shears D, Paganoni A et al.
(
2022
)
.
Variants in Methyl-CpG-binding protein 2 (MECP2) are associated with X-Linked Central Precocious Puberty
.
Endocrine Abstracts
Kokotsis V, Burchett C, Butler G, Dattani M, Hughes C, McGuigan M, Shah P, Willemsen R et al.
(
2022
)
.
Central Delayed Puberty in Adolescence: Differentiating the phenotypes of Congenital Hypogonadotropic Hypogonadism and Self-Limited Delayed Puberty
.
Endocrine Abstracts
Dunkel L, Prasad R, Martin L, Senniappan S, Butler G, Howard S
(
2022
)
.
UK protocol for induction of puberty with gonadotropins in males with hypogonadotropic hypogonadism
.
Endocrine Abstracts
Howard SR, Freeston S, Harrison B, Izatt L, Natu S, Newbold K, Pomplun S, Spoudeas HA et al.
(
2022
)
.
Paediatric differentiated thyroid carcinoma: a UK National Clinical Practice Consensus Guideline
.
Endocrine Related Cancer
vol.
29
,
(
11
)
g1
-
g33
.
Howard SR, Kurzawinski TR, Gaze MN
(
2022
)
.
New UK guidelines for differentiated thyroid cancer in children
.
British Journal of Surgery
vol.
109
,
(
10
)
1021
-
1022
.
Oleari R, Lettieri A, J.J. PA, Amoruso F, Scheiffele P, Howard S, Cariboni A
.
Combined omic analysis revealed autism-linked NLGN3as new candidate gene associated to GnRH neuron development and disease
.
Endocrine Abstracts
.
Oleari R, Lettieri A, Manzini S, Paganoni AJJ, Grazioli P, Busnelli M, Storr HL, Massa V et al.
(
2022
)
.
A combined omic analysis revealed autism-linked <i>NLGN3</i> as a new candidate gene associated to GnRH neuron development and disease
.
EUROPEAN JOURNAL OF HUMAN GENETICS
.
vol.
30
,
34
-
34
.
Martin BS, Howard SR, Hughes CR, Storr HL, Willemsen RH
(
2022
)
.
Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
95
,
379
-
379
.
Howard S
(
2022
)
.
Differential diagnosis of pubertal delay in girls What's new?
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
95
,
19
-
19
.
Canton A, Tinano F, Guasti L, Montenegro L, Ryan F, Shears D, Melo ME, Gomes L et al.
(
2022
)
.
X-Linked Central Precocious Puberty Associated with <i>MECP2</i> defects
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
95
,
363
-
364
.
Saengkaew T, Ruiz-Babot G, David A, Mancini A, Mariniello K, Cabrera CP, Barnes MR, Dunkel L et al.
(
2021
)
.
Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty
.
npj Genomic Medicine
vol.
6
,
(
1
)
Howard S, Saengkaew T, Dunkel L, Guasti L
(
2021
)
.
Dominant mutations in CCDC141 are found by ehole rxome dequencing to be a common cause of self-limited delayed puberty
.
Endocrine Abstracts
Saengkaew T, Howard SR
(
2021
)
.
Genetics of pubertal delay
.
Clinical Endocrinology
vol.
97
,
(
4
)
473
-
482
.
Saengkaew T, Patel HR, Banerjee K, Butler G, Dattani MT, McGuigan M, Storr HL, Willemsen RH et al.
(
2021
)
.
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty
.
European Journal of Endocrinology
vol.
185
,
(
5
)
617
-
627
.
Howard SR
(
2021
)
.
Interpretation of reproductive hormones before, during and after the pubertal transition—Identifying health and disordered puberty
.
Clinical Endocrinology
vol.
95
,
(
5
)
702
-
715
.
Saengkaew T, Mancini A, Ruiz-Babot G, Cabrera CP, Barnes MR, Dunkel L, Guasti L, Howard S
(
2021
)
.
Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty
.
Journal of the Endocrine Society
vol.
5
,
(
Supplement_1
)
a665
-
a666
.
Saengkaew T, Dunkel L, Howard SR
(
2021
)
.
Role of Genetic Analysis for the Differential Diagnosis of Delayed Puberty from the UK Puberty Cohort
.
Journal of the Endocrine Society
vol.
5
,
(
Supplement_1
)
a669
-
a669
.
Howard S
(
2021
)
.
Delayed puberty: A genetic condition?
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
94
,
7
-
7
.
Saengkaew T, Howard SR
(
2020
)
.
Next-generation sequencing approach in the diagnosis of delayed puberty
.
Current Opinion in Endocrine and Metabolic Research
vol.
14
,
59
-
64
.
Mancini A, Howard SR, Marelli F, Cabrera CP, Barnes MR, Sternberg MJE, Leprovots M, Hadjidemetriou I et al.
(
2020
)
.
LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling
.
JCI Insight
vol.
5
,
(
11
)
Phylactou M, Abbara A, Eng PC, Clarke S, Izzi-Engbeaya C, Jayasena C, Comninos A, Howard S et al.
(
2020
)
.
Should SHBG be measured in every patient before diagnosing hypogonadotrophic hypogonadism?
.
Endocrine Abstracts
Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Vassert G, Cariboni A et al.
(
2019
)
.
Defects in LGR4 Wnt-[beta]-catenin signalling impair GnRH network development, leading to delayed puberty
.
Endocrine Abstracts
Howard S, de Roux N, Leger J, Carel J-C, Dunkel L
(
2019
)
.
Puberty and its disorders
.
Brook's Clinical Pediatric Endocrinology
,
Editors:
Dattani, M, Brook, C
,
John Wiley & Sons
Howard SR
(
2019
)
.
Genetic regulation in pubertal delay
.
Journal of Molecular Endocrinology
vol.
63
,
(
3
)
R37
-
R49
.
A M, SR H, CP C, MR B, A D, K W, S H, A L et al.
(
2019
)
.
EAP1 regulation of GnRH promoter activity is important for human pubertal timing
.
SR H, R O, A P, V C, A F, G R-B, LA M, CP C et al.
(
2019
)
.
HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes
.
Howard SR
(
2019
)
.
The Genetic Basis of Delayed Puberty
.
Frontiers in Endocrinology
vol.
10
,
Howard S, Cabrera C, Barnes M, Dunkel L
(
2019
)
.
MON-LB048 Delayed or Absent? Use of Next Generation Sequencing Diagnostic Tools in a UK Puberty Cohort
.
Journal of the Endocrine Society
vol.
3
,
(
Supplement_1
)
mon
-
lb048
.
Howard S, Cabrera C, Barnes M, Dunkel L
(
2019
)
.
MON-LB048 Delayed or Absent? Use of Next Generation Sequencing Diagnostic Tools in a UK Puberty Cohort
.
Journal of the Endocrine Society
vol.
3
,
(
Suppl 1
)
Howard SR, Dunkel L
(
2019
)
.
Delayed Puberty – Phenotypic Diversity, Molecular Genetic Mechanisms and Recent Discoveries
.
Endocrine Reviews
Howard S, Dunkel L
(
2019
)
.
Genetics of Delayed Puberty
.
Pituitary Disorders of Childhood
,
Springer Nature
Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Heger S, Lomniczi A et al.
(
2019
)
.
EAP1 regulation of GnRH promoter activity is important for human pubertal timing
.
Human Molecular Genetics
vol.
28
,
(
8
)
1357
-
1368
.
Saengkaew T, Mancini A, Ruiz-Babot G, Cabrera C, Barnes M, Dunkel L, Guasti L, Howard S
(
2019
)
.
Defects in the GnRH Neuroendocrine Network Affect the Timing of Puberty
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
91
,
67
-
67
.
Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Vassart G, Cariboni A et al.
(
2019
)
.
LGR 4-Wnt β-catenin signalling directs GnRH network development, with defects leading to self-limited delayed puberty
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
91
,
46
-
46
.
Howard SR, Cabrera CP, Barnes MR, Dunkel L
(
2018
)
.
Delayed or Absent? - use of next generation sequencing diagnostic tools in a UK puberty cohort
.
Endocrine Abstracts
Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP et al.
(
2018
)
.
HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes
.
The Journal of Clinical Endocrinology & Metabolism
vol.
103
,
(
9
)
3420
-
3429
.
Howard S, Dunkel L
(
2018
)
.
‘Management of Hypogonadism From Birth to Adolescence’ for Best Practice and Research Clinical Endocrinology and Metabolism
.
Best Practice & Research Clinical Endocrinology & Metabolism
HOWARD - HALL SRR
(
2018
)
.
Genes underlying delayed puberty
.
Molecular and Cellular Endocrinology
Cassatella D, Howard SR, Acierno JS, Xu C, Papadakis GE, Santoni FA, Dwyer AA, Santini S et al.
(
2018
)
.
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
.
European Journal of Endocrinology
vol.
178
,
(
4
)
377
-
388
.
Mancini A, Howard SR, Cabrera CP, Barnes MR, Heger S, Guasti L, Ojeda S, Dunkel L
(
2018
)
.
<i>EAP1</i> Mutations Cause an Impaired Transcriptional Activity on GnRH Promoter That Leads to Self-Limited Delayed Puberty
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
90
,
20
-
20
.
Howard S, Dunkel L
(
2018
)
.
Delayed Puberty and Hypogonadism, Female
.
Encyclopedia of Endocrine Diseases
,
Elsevier
Howard S, Dunkel L
(
2018
)
.
Delayed puberty and hypogonadism; female
.
Encyclopedia of Endocrine Diseases
,
Howard S, Newbold K, Freeston S, Natu S, Pomplun S, Izatt L, Gaze M, Barney H et al.
(
2018
)
.
Guidelines for the Management of Paediatric Differentiated Thyroid Carcinoma; A UK Endeavour
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
90
,
42
-
43
.
Howard S, Oleari R, Mancini A, Poliandri A, Saengkaew T, Guasti L, Cariboni A, Dunkel L
(
2018
)
.
Role of GnRH Neuronal Migration and Development in Self-Limited Delayed Puberty
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
90
,
68
-
68
.
Howard SR, Guasti L, Poliandri A, David A, Cabrera CP, Barnes MR, Wehkalampi K, O’Rahilly S et al.
(
2017
)
.
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty
.
The Journal of Clinical Endocrinology & Metabolism
vol.
103
,
(
2
)
649
-
659
.
Howard S, Andre V, Guasti L, Cabrera C, Barnes M, Cariboni A, Dunkel L
(
2017
)
.
Patients with self-limited delayed puberty harbour mutations in multiple genes controlling GnRH neuronal development
.
Endocrine Abstracts
Dunkel L, Howard S
(
2017
)
.
The Genetic Basis of Delayed Puberty
.
Neuroendocrinology
vol.
106
,
(
3
)
283
-
291
.
Howard S, Dunkel L
(
2017
)
.
Normal and Delayed Puberty
.
Male Hypogonadism
,
Springer Nature
Poliandri A, Miller D, Howard S, Nobles M, Ruiz-Babot G, Harmer S, Tinker A, McKay T et al.
(
2017
)
.
Generation of kisspeptin-responsive GnRH neurons from human pluripotent stem cells
.
Molecular and Cellular Endocrinology
vol.
447
,
12
-
22
.
Quinton R, Mamoojee Y, Jayasena CN, Young J, Howard S, Dunkel L, Cheetham T, Smith N et al.
(
2017
)
.
Society for Endocrinology UK guidance on the evaluation of suspected disorders of sexual development: emphasizing the opportunity to predict adolescent pubertal failure through a neonatal diagnosis of absent minipuberty
.
Clin Endocrinol (Oxf)
vol.
86
,
(
2
)
305
-
306
.
Huhtaniemi IT, Howard S, Dunkel L, Anderson RA
(
2017
)
.
4.01 The Gonadal Axis: A Life Perspective
.
Hormones, Brain and Behavior
,
Elsevier
Howard SR, Andre V, Guasti L, Cabrera CP, Barnes MR, Cariboni A, Dunkel L
(
2017
)
.
DISCOVERY OF MUTATIONS IN MULTIPLE GENES CONTROLLING GNRH NEURONAL MIGRATION AND DEVELOPMENT IN PATIENTS WITH SELF-LIMITED DELAYED PUBERTY
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
88
,
59
-
59
.
Howard SR, Newbold K, Izatt L, Beale T, Gaze M, Pomplun S, Natu S, Freeston S et al.
(
2017
)
.
NATIONAL UK GUIDELINES FOR THE INVESTIGATION, TREATMENT AND LONG- TERM FOLLOW- UP OF PAEDIATRIC DIFFERENTIATED THYROID CARCINOMA
.
HORMONE RESEARCH IN PAEDIATRICS
.
vol.
88
,
385
-
385
.
Huhtaniemi I, Howard S, Dunkel L, Anderson R
(
2016
)
.
The Gonadal Axis: A life perspective
.
Hormones, Brain and Behavior
,
Editors:
Pfaff, DW, Joels, M
,
Academic Press
Mancini A, Howard SR, Ruiz-Babot G, Cabrera CP, Barnes MR, Guasti L, Dunkel L
.
LGR4 and EAP1 mutations are implicated in the phenotype of self-limited delayed puberty
.
Endocrine Abstracts
.
HOWARD SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell LA, Sternberg MJE et al.
(
2016
)
.
IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty
.
EMBO Molecular Medicine
vol.
8
,
(
6
)
626
-
42
.
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al.
(
2016
)
.
Role of IGSF10 mutations in self-limited delayed puberty
.
The Lancet
.
vol.
387
,
Howard S, Dunkel L
(
2015
)
.
Sex Steroid and Gonadotropin Treatment in Male Delayed Puberty
.
Karger Publishers
Howard S, Poliandre A, Storr HL, Metherell LA, Cabrera C, Warren H, Barnes M, Wehkalampi K et al.
(
2015
)
.
Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH)
.
Endocrine Abstracts
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Cabrera C et al.
(
2015
)
.
Mutations in IGSF10 cause self-limited delayed puberty
.
Endocrine Abstracts
Howard S, Poliandri A, Storr H, Metherell L, Cabrera C, Barnes M, Warren H, Wehkalampi K et al.
(
2015
)
.
Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism
.
Endocrine Abstracts
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al.
(
2015
)
.
Mutations in IGSF10 cause self-limited delayed puberty, via disturbance of GnRH neuronal migration
.
Endocrine Abstracts
Joustra SD, Wehkalampi K, Oostdijk W, Biermasz NR, Howard S, Silander TL, Bernard DJ, Wit JM et al.
(
2015
)
.
IGSF1 variants in boys with familial delayed puberty
.
European Journal of Pediatrics
vol.
174
,
(
5
)
687
-
692
.
Howard S, Guasti L, Storr H, Metherell L, Cariboni A, Barnes M, Cabrera C, Wehkalampi K et al.
(
2014
)
.
A novel gene affecting the timing of puberty
.
Endocrine Abstracts
Katugampola H, Howard S, Allgrove J
(
2014
)
.
PTEN hamartoma syndrome: unravelling the complexities of childhood surveillance
.
Endocrine Abstracts
Howard S, Barnes M, Storr H, Wehkalampi K, Metherell L, Dunkel L
(
2013
)
.
Familial constitutional delay in growth and puberty is a condition with significant genetic heterogeneity and limited overlap with the timing of puberty in the general population
.
Endocrine Abstracts1
-
1
.
Howard SR, Butler GE
(
2013
)
.
An Analysis of the Clinical and Cost Effectiveness of Growth Hormone Replacement Therapy before and during Puberty: Should We Increase the Dose?
.
Hormone Research in Paediatrics
vol.
79
,
(
2
)
75
-
82
.
Hyams C, Day TG, Ramroop S, Paget S, Howard S, McMillan M, Vora S, de Keyser P
(
2012
)
.
An Unusual Case of Incomplete Kawasaki Disease in an Adolescent Returning From Holiday in Montana
.
Pediatric Cardiology
vol.
33
,
(
7
)
1196
-
1199
.
Howard S
(
2010
)
.
Question 1 Does oral ondansetron reduce vomiting and the need for intravenous fluids and hospital admission in children presenting with vomiting secondary to gastroenteritis?
.
Archives of Disease in Childhood
vol.
95
,
(
11
)
Howard S, Raine J, Dattani M
(
2009
)
.
Corneal rupture in a child with Down syndrome and hyperthyroidism
.
BMJ Case Reports
vol.
2009
,
(
mar05 1
)
Howard S, Lyder G, Allgrove J, Shaw N
(
2009
)
.
Case histories
.
Endocr Dev
vol.
16
,
246
-
280
.